Centogene AG - the Rare Disease Company
General information
Centogene AG - the Rare Disease Company
Am Strande 7
CENTOGENE New Headquarter
Rostock
Mecklenburg-Vorpommern
Germany - 18055
https://www.centogene.com/company/contact.html
Organization ID: 279559
Am Strande 7
CENTOGENE New Headquarter
Rostock
Mecklenburg-Vorpommern
Germany - 18055
https://www.centogene.com/company/contact.html
Organization ID: 279559
Personnel
- Ellen Karges
Phone: (49)0381203652218
Email: ellen.karges@centogene.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1216
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AARS1 | 1 | Dec 21, 2021 |
| AARS2 | 1 | Dec 21, 2021 |
| ABCA1 | 1 | Nov 29, 2021 |
| ABCA4 | 4 | Dec 21, 2021 |
| ABCA7 | 3 | Dec 21, 2021 |
| ABCB11 | 6 | Aug 5, 2020 |
| ABCB4 | 3 | Dec 21, 2021 |
| ABCB7 | 1 | Dec 21, 2021 |
| ABCC6 | 2 | Dec 21, 2021 |
| ABCC8 | 1 | Jul 14, 2020 |
| ABCC9 | 1 | Jul 14, 2020 |
| ABCD1 | 1 | Dec 21, 2021 |
| ABCD4 | 1 | Dec 21, 2021 |
| ABHD5 | 1 | Jul 14, 2020 |
| ACADVL | 1 | Aug 5, 2020 |
| ACTA1 | 1 | Dec 21, 2021 |
| ACTA2 | 1 | Aug 5, 2020 |
| ACTB | 3 | Dec 21, 2021 |
| ACTG1 | 3 | Dec 21, 2021 |
| ACTG2 | 1 | Dec 21, 2021 |
| ADA2 | 2 | Dec 21, 2021 |
| ADAT3 | 3 | Dec 21, 2021 |
| ADCY5 | 1 | Dec 21, 2021 |
| ADD3 | 1 | Dec 21, 2021 |
| ADGRV1 | 2 | Dec 21, 2021 |
| AFG3L2 | 4 | Dec 21, 2021 |
| AGL | 6 | Jul 14, 2020 |
| AGPS | 1 | Dec 21, 2021 |
| AGXT | 1 | Jul 14, 2020 |
| AHDC1 | 2 | Nov 4, 2022 |
| ALAS2 | 1 | Dec 21, 2021 |
| ALDH18A1 | 1 | Dec 21, 2021 |
| ALDOB | 2 | Aug 5, 2020 |
| ALPL | 1 | Jul 14, 2020 |
| ALS2 | 1 | Jul 14, 2020 |
| AMT | 1 | Dec 21, 2021 |
| ANK1 | 1 | Jul 14, 2020 |
| ANK2 | 1 | Dec 21, 2021 |
| ANKH | 1 | Aug 5, 2020 |
| ANKRD11 | 5 | Nov 4, 2022 |
| ANO3 | 1 | Dec 21, 2021 |
| ANTXR2 | 1 | Aug 5, 2020 |
| AP5Z1 | 1 | Aug 5, 2020 |
| APC | 1 | Aug 5, 2020 |
| APOC2 | 1 | Dec 21, 2021 |
| APOC4-APOC2 | 1 | Dec 21, 2021 |
| APOE | 2 | Nov 4, 2022 |
| APP | 1 | Dec 21, 2021 |
| APP-DT | 1 | Dec 21, 2021 |
| ARFGEF1-DT | 1 | Dec 21, 2021 |
| ARG1 | 2 | Dec 21, 2021 |
| ARHGEF9 | 1 | Aug 5, 2020 |
| ARID1B | 4 | Nov 4, 2022 |
| ARID2 | 1 | Dec 21, 2021 |
| ARSA | 1 | Aug 5, 2020 |
| ARSB | 1 | Aug 5, 2020 |
| ARSL | 1 | Aug 5, 2020 |
| ARX | 3 | Dec 21, 2021 |
| ASCC1 | 2 | Dec 21, 2021 |
| ASL | 1 | Jul 14, 2020 |
| ASPA | 2 | Jul 14, 2020 |
| ASPH | 2 | Dec 21, 2021 |
| ASS1 | 1 | Aug 5, 2020 |
| ASXL3 | 2 | Dec 21, 2021 |
| ATAD3A | 1 | Dec 21, 2021 |
| ATL1 | 2 | Dec 21, 2021 |
| ATM | 5 | Dec 21, 2021 |
| ATP13A2 | 1 | Dec 21, 2021 |
| ATP1A2 | 1 | Dec 21, 2021 |
| ATP1A3 | 4 | Dec 21, 2021 |
| ATP2B3 | 2 | Dec 21, 2021 |
| ATP5F1A | 1 | Dec 21, 2021 |
| ATP6V0A4 | 2 | Jul 14, 2020 |
| ATP7A | 1 | Dec 21, 2021 |
| ATP7B | 6 | Dec 21, 2021 |
| ATP8B1 | 2 | Jul 14, 2020 |
| ATRIP | 2 | Dec 21, 2021 |
| ATRIP-TREX1 | 2 | Dec 21, 2021 |
| ATRX | 2 | Dec 21, 2021 |
| ATXN7L3-AS1 | 1 | Dec 21, 2021 |
| BCL11B | 1 | Dec 21, 2021 |
| BCOR | 2 | Dec 21, 2021 |
| BCORL1 | 2 | Nov 4, 2022 |
| BLK | 1 | Dec 21, 2021 |
| BLM | 1 | Aug 5, 2020 |
| BMPR1A | 1 | Jul 14, 2020 |
| BPTF | 1 | Dec 21, 2021 |
| BRAT1 | 2 | Nov 4, 2022 |
| BRCA1 | 1 | Jul 14, 2020 |
| BRCA2 | 1 | Dec 21, 2021 |
| BRPF1 | 1 | Dec 21, 2021 |
| BRWD3 | 1 | Dec 21, 2021 |
| BTD | 4 | Dec 21, 2021 |
| BTK | 2 | Jul 14, 2020 |
| C11orf65 | 1 | Aug 5, 2020 |
| C1QA | 1 | Aug 5, 2020 |
| C1R | 1 | Jul 14, 2020 |
| C6 | 1 | Aug 5, 2020 |
| CA5A | 1 | Jul 14, 2020 |
| CACNA1A | 5 | Dec 21, 2021 |
| CACNA1C | 2 | Dec 21, 2021 |
| CACNA1C-AS1 | 1 | Dec 21, 2021 |
| CACNA1D | 2 | Dec 21, 2021 |
| CACNA1F | 1 | Dec 21, 2021 |
| CACNA1G | 2 | Dec 21, 2021 |
| CACNA1H | 2 | Dec 21, 2021 |
| CACNA1S | 2 | Dec 21, 2021 |
| CAMK2B | 1 | Dec 21, 2021 |
| CAMTA1 | 1 | Dec 21, 2021 |
| CANT1 | 1 | Aug 5, 2020 |
| CAPN1 | 1 | Aug 5, 2020 |
| CASD1 | 1 | Dec 21, 2021 |
| CASK | 3 | Dec 21, 2021 |
| CBS | 1 | Jul 14, 2020 |
| CC2D1A | 2 | Dec 21, 2021 |
| CCDC88C | 1 | Dec 21, 2021 |
| CCDST | 2 | Nov 29, 2021 |
| CCM2 | 1 | Aug 5, 2020 |
| CCNH | 2 | Dec 21, 2021 |
| CD46 | 1 | Dec 21, 2021 |
| CDAN1 | 2 | Dec 21, 2021 |
| CDC42 | 1 | Jul 14, 2020 |
| CDC45 | 1 | Dec 21, 2021 |
| CDK13 | 2 | Dec 21, 2021 |
| CEP290 | 1 | Dec 21, 2021 |
| CFHR5 | 1 | Dec 21, 2021 |
| CFTR | 5 | Sep 4, 2024 |
| CFTR-AS1 | 2 | Dec 21, 2021 |
| CHD3 | 1 | Dec 21, 2021 |
| CHD4 | 1 | Dec 21, 2021 |
| CHD7 | 1 | Dec 21, 2021 |
| CHD8 | 7 | Dec 21, 2021 |
| CHEK2 | 1 | Aug 5, 2020 |
| CHMP2B | 2 | Dec 21, 2021 |
| CHRNA4 | 1 | Dec 21, 2021 |
| CHRNB1 | 1 | Dec 21, 2021 |
| CHRNB2 | 1 | Dec 21, 2021 |
| CHRNE | 1 | Jul 14, 2020 |
| CHRNG | 1 | Nov 29, 2021 |
| CIC | 2 | Dec 21, 2021 |
| CLDN10 | 1 | Aug 5, 2020 |
| CLDN16 | 1 | Aug 5, 2020 |
| CLN6 | 1 | Jul 14, 2020 |
| CLTC | 3 | Dec 21, 2021 |
| CNGA3 | 1 | Jul 14, 2020 |
| CNGB3 | 1 | Aug 5, 2020 |
| CNTN2 | 2 | Dec 21, 2021 |
| CNTNAP2 | 2 | Aug 5, 2020 |
| COG6 | 1 | Aug 5, 2020 |
| COL10A1 | 1 | Dec 21, 2021 |
| COL11A2 | 1 | Dec 21, 2021 |
| COL12A1 | 4 | Dec 21, 2021 |
| COL17A1 | 1 | Jul 14, 2020 |
| COL18A1 | 1 | Aug 5, 2020 |
| COL1A1 | 3 | Dec 21, 2021 |
| COL1A2 | 1 | Dec 21, 2021 |
| COL2A1 | 2 | Dec 21, 2021 |
| COL4A1 | 4 | Nov 4, 2022 |
| COL4A2 | 1 | Dec 21, 2021 |
| COL4A3 | 12 | Feb 22, 2022 |
| COL4A4 | 8 | Feb 22, 2022 |
| COL4A5 | 11 | Feb 22, 2022 |
| COL5A1 | 4 | Dec 21, 2021 |
| COL6A1 | 1 | Dec 21, 2021 |
| COL6A2 | 3 | Dec 19, 2022 |
| COL7A1 | 1 | Aug 5, 2020 |
| COLQ | 1 | Dec 21, 2021 |
| COMP | 2 | Dec 21, 2021 |
| COQ4 | 3 | Dec 21, 2021 |
| COQ8A | 1 | Dec 21, 2021 |
| COQ8B | 1 | Nov 4, 2022 |
| CPA6 | 1 | Dec 21, 2021 |
| CPOX | 1 | Dec 21, 2021 |
| CPT1C | 1 | Dec 21, 2021 |
| CPT2 | 1 | Dec 21, 2021 |
| CTC1 | 2 | Dec 21, 2021 |
| CTCF | 1 | Dec 21, 2021 |
| CTNNA3 | 1 | Dec 21, 2021 |
| CTNNB1 | 1 | Dec 21, 2021 |
| CTNS | 1 | Jul 14, 2020 |
| CUL3 | 1 | Aug 5, 2020 |
| CUX1 | 1 | Dec 21, 2021 |
| CYP1B1 | 1 | Aug 5, 2020 |
| CYP21A2 | 1 | Jul 14, 2020 |
| CYP24A1 | 1 | Dec 21, 2021 |
| CYP27A1 | 1 | Jul 14, 2020 |
| CYP2U1 | 1 | Aug 5, 2020 |
| CYP2U1-AS1 | 1 | Aug 5, 2020 |
| DBT | 1 | Jul 14, 2020 |
| DCDC2 | 1 | Jul 14, 2020 |
| DCHS1 | 1 | Dec 21, 2021 |
| DDC | 1 | Jul 14, 2020 |
| DEAF1 | 2 | Dec 21, 2021 |
| DEPDC5 | 2 | Dec 21, 2021 |
| DISP1 | 2 | Dec 21, 2021 |
| DLD | 1 | Jul 14, 2020 |
| DLL4 | 1 | Aug 5, 2020 |
| DMD | 2 | Aug 5, 2020 |
| DNA2 | 2 | Dec 21, 2021 |
| DNAH11 | 1 | Aug 5, 2020 |
| DNAJB6 | 1 | Dec 21, 2021 |
| DNM1 | 1 | Dec 21, 2021 |
| DNM2 | 1 | Aug 5, 2020 |
| DNMT1 | 1 | Dec 21, 2021 |
| DNMT3A | 1 | Aug 5, 2020 |
| DPYD | 2 | Nov 29, 2021 |
| DSG2 | 1 | Jul 14, 2020 |
| DSP | 1 | Dec 21, 2021 |
| DST | 2 | Dec 21, 2021 |
| DUOX2 | 1 | Nov 29, 2021 |
| DUOXA2 | 1 | Aug 5, 2020 |
| DVL3 | 1 | Dec 21, 2021 |
| DYRK1A | 2 | Nov 4, 2022 |
| DYSF | 1 | Aug 5, 2020 |
| ECEL1 | 2 | Dec 21, 2021 |
| EEF2 | 1 | Dec 21, 2021 |
| EHMT1 | 1 | Aug 5, 2020 |
| ELOVL4 | 1 | Sep 4, 2024 |
| EMD | 1 | Aug 5, 2020 |
| ENO3 | 2 | Dec 21, 2021 |
| ENPP1 | 1 | Dec 21, 2021 |
| EP300 | 6 | Nov 4, 2022 |
| EPCAM | 2 | Jul 14, 2020 |
| ERBB4 | 2 | Dec 21, 2021 |
| ERCC6 | 1 | Aug 5, 2020 |
| ERMARD | 1 | Dec 21, 2021 |
| ETFDH | 1 | Jul 14, 2020 |
| ETHE1 | 2 | Aug 5, 2020 |
| EVC2 | 1 | Dec 21, 2021 |
| EXT2 | 2 | Dec 21, 2021 |
| FA2H | 1 | Jul 14, 2020 |
| FAH | 3 | Jul 14, 2020 |
| FANCA | 1 | Dec 21, 2021 |
| FANCF | 1 | Dec 21, 2021 |
| FAT2 | 1 | Dec 21, 2021 |
| FBN1 | 2 | Dec 21, 2021 |
| FBP1 | 3 | Jul 14, 2020 |
| FBXO11 | 2 | Dec 21, 2021 |
| FBXO7 | 1 | Dec 21, 2021 |
| FCSK | 1 | Dec 21, 2021 |
| FGD1 | 1 | Dec 21, 2021 |
| FGFR1 | 4 | Dec 21, 2021 |
| FGFR3 | 3 | Dec 21, 2021 |
| FIG4 | 1 | Dec 21, 2021 |
| FLG | 2 | Nov 29, 2021 |
| FLNA | 1 | Dec 21, 2021 |
| FLNC | 2 | Dec 21, 2021 |
| FLNC-AS1 | 1 | Dec 21, 2021 |
| FN1 | 2 | Dec 21, 2021 |
| FOXG1 | 1 | Aug 5, 2020 |
| FOXP1 | 3 | Dec 21, 2021 |
| FOXP2 | 1 | Dec 21, 2021 |
| FRMPD4 | 1 | Dec 21, 2021 |
| FRRS1L | 1 | Aug 5, 2020 |
| FTSJ1 | 1 | Dec 21, 2021 |
| FUCA1 | 1 | Jul 14, 2020 |
| G6PC1 | 2 | Jul 14, 2020 |
| G6PD | 6 | Dec 21, 2021 |
| GAA | 3 | Dec 21, 2021 |
| GABBR2 | 1 | Aug 5, 2020 |
| GABRA1 | 3 | Dec 21, 2021 |
| GALC | 1 | Aug 5, 2020 |
| GALNS | 6 | Dec 21, 2021 |
| GALT | 2 | Jul 14, 2020 |
| GATAD1 | 1 | Jul 14, 2020 |
| GATAD2B | 1 | Dec 21, 2021 |
| GBA1 | 8 | Dec 21, 2021 |
| GCDH | 1 | Dec 21, 2021 |
| GCH1 | 2 | Dec 21, 2021 |
| GCK | 1 | Dec 21, 2021 |
| GDAP2 | 1 | Dec 21, 2021 |
| GDF5 | 1 | Dec 21, 2021 |
| GDF5-AS1 | 1 | Dec 21, 2021 |
| GJB2 | 1 | Dec 21, 2021 |
| GLA | 4 | Dec 21, 2021 |
| GLB1 | 3 | Jul 14, 2020 |
| GLDN | 1 | Aug 5, 2020 |
| GMNN | 1 | Dec 21, 2021 |
| GNAO1 | 1 | Dec 21, 2021 |
| GNB5 | 1 | Jul 14, 2020 |
| GNE | 1 | Dec 21, 2021 |
| GNPTAB | 2 | Aug 5, 2020 |
| GREB1L | 1 | Dec 21, 2021 |
| GRIN1 | 1 | Dec 21, 2021 |
| GRIN2A | 2 | Dec 21, 2021 |
| GRIN2B | 2 | Dec 21, 2021 |
| GRIN2D | 3 | Dec 21, 2021 |
| GTPBP2 | 2 | Aug 5, 2020 |
| GUCY2D | 1 | Dec 21, 2021 |
| HARS1 | 1 | Dec 21, 2021 |
| HBA1 | 1 | Dec 21, 2021 |
| HBB | 6 | Nov 29, 2021 |
| HDAC8 | 2 | Dec 21, 2021 |
| HDC | 1 | Dec 21, 2021 |
| HERC2 | 2 | Dec 21, 2021 |
| HEXA | 3 | Jul 14, 2020 |
| HEXB | 3 | Aug 5, 2020 |
| HFE | 2 | Nov 29, 2021 |
| HFE-AS1 | 1 | Nov 29, 2021 |
| HIBCH | 1 | Dec 21, 2021 |
| HIVEP2 | 2 | Dec 21, 2021 |
| HMBS | 3 | Dec 21, 2021 |
| HNF4A | 1 | Dec 21, 2021 |
| HNRNPH2 | 1 | Dec 21, 2021 |
| HNRNPU | 1 | Dec 21, 2021 |
| HRAS | 1 | Dec 21, 2021 |
| HS6ST2 | 1 | Dec 21, 2021 |
| HUWE1 | 3 | Dec 21, 2021 |
| HYLS1 | 1 | Aug 5, 2020 |
| IDUA | 1 | Jul 14, 2020 |
| IFT140 | 2 | Aug 5, 2020 |
| IFT57 | 1 | Aug 5, 2020 |
| IGH | 1 | Jul 14, 2020 |
| IGHM | 1 | Jul 14, 2020 |
| IGHMBP2 | 1 | Dec 21, 2021 |
| IL1RAPL1 | 1 | Dec 21, 2021 |
| IL21R | 1 | Jul 14, 2020 |
| IQSEC2 | 1 | Dec 21, 2021 |
| IRAK1BP1 | 1 | Dec 21, 2021 |
| IRF2BP2 | 1 | Dec 21, 2021 |
| ITM2B | 1 | Dec 21, 2021 |
| ITPA | 1 | Jul 14, 2020 |
| ITPR1 | 1 | Dec 21, 2021 |
| IVD | 1 | Jul 14, 2020 |
| JAG1 | 2 | Dec 21, 2021 |
| JAM3 | 1 | Aug 5, 2020 |
| JMJD8 | 1 | Dec 21, 2021 |
| KAT6B | 2 | Dec 21, 2021 |
| KCNA5 | 1 | Dec 21, 2021 |
| KCNC1 | 1 | Dec 21, 2021 |
| KCND3 | 1 | Dec 21, 2021 |
| KCNH1 | 1 | Aug 5, 2020 |
| KCNN3 | 1 | Dec 21, 2021 |
| KCNN4 | 1 | Dec 21, 2021 |
| KCNQ2 | 4 | Dec 21, 2021 |
| KCNQ3 | 1 | Dec 21, 2021 |
| KDM6A | 1 | Dec 21, 2021 |
| KIAA0586 | 2 | Dec 21, 2021 |
| KIDINS220 | 1 | Dec 21, 2021 |
| KIF1A | 4 | Dec 21, 2021 |
| KIF1B | 1 | Dec 21, 2021 |
| KIF22 | 1 | Aug 5, 2020 |
| KIF5A | 2 | Dec 21, 2021 |
| KIFBP | 1 | Aug 5, 2020 |
| KIT | 1 | Dec 21, 2021 |
| KMT2A | 2 | Dec 21, 2021 |
| KMT2B | 2 | Dec 21, 2021 |
| KMT2C | 1 | Dec 21, 2021 |
| KMT2D | 6 | Nov 4, 2022 |
| KMT5B | 1 | Dec 21, 2021 |
| L1CAM | 1 | Nov 29, 2021 |
| L2HGDH | 2 | Dec 21, 2021 |
| LAMA2 | 1 | Aug 5, 2020 |
| LAMB2 | 1 | Aug 5, 2020 |
| LAMB3 | 2 | Dec 21, 2021 |
| LARP7 | 1 | Aug 5, 2020 |
| LAS1L | 1 | Dec 21, 2021 |
| LDB3 | 1 | Dec 21, 2021 |
| LDLR | 3 | Dec 21, 2021 |
| LGI4 | 2 | Aug 5, 2020 |
| LIFR | 1 | Dec 21, 2021 |
| LINC00630 | 1 | Dec 21, 2021 |
| LIPA | 1 | Dec 21, 2021 |
| LMX1B | 1 | Dec 21, 2021 |
| LOC100506235 | 1 | Dec 21, 2021 |
| LOC102724058 | 2 | Dec 21, 2021 |
| LOC106099062 | 5 | Nov 29, 2021 |
| LOC106627981 | 8 | Dec 21, 2021 |
| LOC106780800 | 1 | Jul 14, 2020 |
| LOC106804613 | 1 | Dec 21, 2021 |
| LOC107133510 | 6 | Nov 29, 2021 |
| LOC109610631 | 1 | Aug 5, 2020 |
| LOC110006319 | 2 | Aug 5, 2020 |
| LOC110121269 | 1 | Dec 21, 2021 |
| LOC110121486 | 1 | Dec 21, 2021 |
| LOC111674472 | 1 | Jul 14, 2020 |
| LOC114827850 | 1 | Dec 21, 2021 |
| LOC126805890 | 1 | Dec 21, 2021 |
| LOC126806583 | 1 | Dec 21, 2021 |
| LOC126806658 | 1 | Dec 21, 2021 |
| LOC126859712 | 2 | Dec 21, 2021 |
| LOC126859827 | 1 | Aug 5, 2020 |
| LOC126860130 | 1 | Aug 5, 2020 |
| LOC126860369 | 1 | Jul 14, 2020 |
| LOC126861242 | 1 | Jul 14, 2020 |
| LOC126861897 | 1 | Aug 5, 2020 |
| LOC126862156 | 1 | Dec 15, 2021 |
| LOC126862264 | 1 | Dec 21, 2021 |
| LOC126862447 | 1 | Aug 5, 2020 |
| LOC126863158 | 1 | Aug 5, 2020 |
| LOC128772254 | 1 | Aug 5, 2020 |
| LOC129930561 | 1 | Dec 21, 2021 |
| LOC129992813 | 1 | Dec 21, 2021 |
| LOC129994126 | 1 | Aug 5, 2020 |
| LOC129994371 | 1 | Aug 5, 2020 |
| LOC129998796 | 1 | Jul 14, 2020 |
| LOC130003135 | 1 | Aug 5, 2020 |
| LOC130009585 | 1 | Aug 5, 2020 |
| LOC130056453 | 1 | Dec 21, 2021 |
| LOC130062340 | 1 | Jul 14, 2020 |
| LOC130063169 | 1 | Dec 21, 2021 |
| LOX | 1 | Aug 5, 2020 |
| LPL | 4 | Jul 14, 2020 |
| LRBA | 5 | Dec 21, 2021 |
| LRP4 | 2 | Dec 21, 2021 |
| LRP5 | 1 | Dec 21, 2021 |
| LRPPRC | 2 | Nov 4, 2022 |
| LRRC56 | 1 | Dec 21, 2021 |
| LRRK2 | 1 | Dec 21, 2021 |
| LZTR1 | 2 | Dec 21, 2021 |
| MAB21L2 | 1 | Aug 5, 2020 |
| MACF1 | 1 | Dec 21, 2021 |
| MAGEL2 | 1 | Aug 5, 2020 |
| MAN2B1 | 2 | Aug 5, 2020 |
| MAOA | 1 | Dec 21, 2021 |
| MAP1B | 1 | Dec 21, 2021 |
| MAPK8IP3 | 1 | Dec 21, 2021 |
| MAPT | 1 | Dec 21, 2021 |
| MASP1 | 2 | Dec 21, 2021 |
| MBD5 | 3 | Dec 21, 2021 |
| MCOLN1 | 1 | Aug 5, 2020 |
| MECP2 | 5 | Nov 4, 2022 |
| MED12 | 3 | Nov 4, 2022 |
| MED12L | 1 | Dec 21, 2021 |
| MED13 | 1 | Dec 21, 2021 |
| MED13L | 4 | Nov 4, 2022 |
| MED17 | 3 | Dec 21, 2021 |
| MED23 | 2 | Dec 21, 2021 |
| MEF2C | 1 | Dec 21, 2021 |
| MEFV | 2 | Dec 21, 2021 |
| MEIS2 | 1 | Dec 21, 2021 |
| METTL23 | 1 | Aug 5, 2020 |
| MFF-DT | 12 | Feb 22, 2022 |
| MHRT | 1 | Aug 5, 2020 |
| MIB1 | 1 | Dec 21, 2021 |
| MILR1 | 1 | Dec 21, 2021 |
| MIR302CHG | 1 | Aug 5, 2020 |
| MLH1 | 1 | Jul 14, 2020 |
| MMAA | 1 | Jul 14, 2020 |
| MMACHC | 1 | Jul 14, 2020 |
| MOGS | 1 | Aug 5, 2020 |
| MORC2 | 2 | Dec 21, 2021 |
| MPDZ | 1 | Aug 5, 2020 |
| MPV17 | 1 | Jul 14, 2020 |
| MPZ | 1 | Dec 21, 2021 |
| MSH2 | 1 | Dec 21, 2021 |
| MSH3 | 1 | Nov 29, 2021 |
| MSH6 | 3 | Dec 21, 2021 |
| MTHFR | 1 | Nov 29, 2021 |
| MTOR | 2 | Dec 21, 2021 |
| MVP-DT | 2 | Dec 21, 2021 |
| MYBPC3 | 4 | Dec 21, 2021 |
| MYH6 | 1 | Dec 21, 2021 |
| MYH7 | 2 | Dec 21, 2021 |
| MYL2 | 1 | Dec 21, 2021 |
| MYO5A | 1 | Dec 21, 2021 |
| MYOT | 1 | Dec 21, 2021 |
| MYT1L | 1 | Dec 21, 2021 |
| NAGA | 1 | Aug 5, 2020 |
| NAGLU | 3 | Jul 14, 2020 |
| NALCN | 1 | Jul 14, 2020 |
| NBAS | 2 | Dec 21, 2021 |
| NDUFS4 | 1 | Aug 5, 2020 |
| NDUFS6 | 1 | Dec 21, 2021 |
| NDUFV1 | 1 | Jul 14, 2020 |
| NEB | 1 | Dec 21, 2021 |
| NEDD4L | 1 | Dec 21, 2021 |
| NEFH | 1 | Dec 21, 2021 |
| NEXMIF | 2 | Aug 5, 2020 |
| NF1 | 3 | Dec 21, 2021 |
| NFIB | 1 | Dec 21, 2021 |
| NFIX | 1 | Dec 21, 2021 |
| NFKB2 | 2 | Dec 21, 2021 |
| NFKBIA | 1 | Dec 21, 2021 |
| NIPSNAP3B | 1 | Nov 29, 2021 |
| NKX6-2 | 3 | Aug 5, 2020 |
| NLRP12 | 1 | Dec 21, 2021 |
| NLRP3 | 1 | Dec 21, 2021 |
| NOD2 | 1 | Dec 21, 2021 |
| NOTCH3 | 1 | Dec 21, 2021 |
| NPC1 | 78 | Sep 16, 2022 |
| NPHS1 | 1 | Aug 5, 2020 |
| NR3C1 | 2 | Dec 21, 2021 |
| NRXN1 | 1 | Dec 21, 2021 |
| NSD1 | 2 | Dec 21, 2021 |
| NSUN2 | 1 | Aug 5, 2020 |
| NT5DC1 | 1 | Dec 21, 2021 |
| NUS1 | 1 | Dec 21, 2021 |
| OGT | 1 | Dec 21, 2021 |
| OPHN1 | 2 | Dec 21, 2021 |
| OXCT1 | 1 | Jul 14, 2020 |
| P2RX2 | 1 | Dec 21, 2021 |
| PACS1 | 1 | Dec 21, 2021 |
| PAH | 7 | Nov 4, 2022 |
| PAK1 | 2 | Dec 21, 2021 |
| PARS2 | 1 | Aug 5, 2020 |
| PAX6 | 1 | Aug 5, 2020 |
| PBX1 | 1 | Aug 5, 2020 |
| PCCA | 1 | Dec 21, 2021 |
| PCCB | 1 | Aug 5, 2020 |
| PCLO | 2 | Dec 21, 2021 |
| PDE11A | 4 | Dec 21, 2021 |
| PDE11A-AS1 | 2 | Dec 21, 2021 |
| PDGFRA | 1 | Dec 21, 2021 |
| PDGFRB | 2 | Dec 21, 2021 |
| PEX1 | 3 | Nov 4, 2022 |
| PEX2 | 1 | Aug 5, 2020 |
| PEX6 | 3 | Dec 21, 2021 |
| PGAP1 | 2 | Dec 21, 2021 |
| PGAP3 | 2 | Nov 29, 2021 |
| PHEX | 1 | Dec 21, 2021 |
| PHIP | 1 | Dec 21, 2021 |
| PHKA1 | 1 | Dec 21, 2021 |
| PHKG2 | 2 | Jul 14, 2020 |
| PI4KA | 1 | Dec 21, 2021 |
| PIEZO2 | 1 | Aug 5, 2020 |
| PIGN | 4 | Dec 21, 2021 |
| PIGO | 2 | Dec 21, 2021 |
| PIK3CA | 3 | Dec 21, 2021 |
| PINK1 | 2 | Dec 21, 2021 |
| PINK1-AS | 2 | Dec 21, 2021 |
| PKD1 | 1 | Dec 21, 2021 |
| PKD1L1 | 2 | Dec 21, 2021 |
| PKD2 | 1 | Dec 21, 2021 |
| PKD2L2-DT | 1 | Dec 21, 2021 |
| PLA2G6 | 4 | Dec 21, 2021 |
| PLCG2 | 2 | Dec 21, 2021 |
| PLEC | 2 | Dec 21, 2021 |
| PMM2 | 3 | Dec 21, 2021 |
| PMP2 | 1 | Dec 21, 2021 |
| PMS2 | 1 | Dec 21, 2021 |
| PNP | 1 | Dec 21, 2021 |
| POGZ | 2 | Dec 21, 2021 |
| POLA1 | 1 | Dec 21, 2021 |
| POLG | 4 | Dec 21, 2021 |
| POLG2 | 1 | Dec 21, 2021 |
| POLGARF | 4 | Dec 21, 2021 |
| POLR1A | 1 | Dec 21, 2021 |
| POLR1C | 3 | Dec 21, 2021 |
| POLR3A | 1 | Aug 5, 2020 |
| POMT1 | 1 | Aug 5, 2020 |
| POR | 1 | Nov 29, 2021 |
| PPA2 | 1 | Dec 21, 2021 |
| PPOX | 1 | Dec 21, 2021 |
| PPP2R1A | 1 | Dec 21, 2021 |
| PPT1 | 2 | Dec 21, 2021 |
| PREPL | 1 | Aug 5, 2020 |
| PRF1 | 1 | Jul 14, 2020 |
| PRG4 | 3 | Aug 5, 2020 |
| PRKCG | 3 | Dec 21, 2021 |
| PRKN | 7 | Dec 21, 2021 |
| PRNP | 2 | Dec 21, 2021 |
| PRPF31 | 1 | Dec 21, 2021 |
| PRPF31-AS1 | 1 | Dec 21, 2021 |
| PRPS1 | 1 | Dec 21, 2021 |
| PRRT2 | 2 | Dec 21, 2021 |
| PRSS1 | 2 | Jul 14, 2020 |
| PRUNE1 | 2 | Dec 21, 2021 |
| PTCH1 | 2 | Nov 4, 2022 |
| PTCHD1 | 1 | Dec 21, 2021 |
| PTCHD1-AS | 1 | Dec 21, 2021 |
| PTEN | 10 | Dec 21, 2021 |
| PTPN11 | 4 | Dec 21, 2021 |
| PURA | 3 | Dec 21, 2021 |
| PUS3 | 1 | Aug 5, 2020 |
| PYCR1 | 2 | Aug 5, 2020 |
| PYGM | 1 | Dec 21, 2021 |
| RAB27A | 1 | Aug 5, 2020 |
| RAB40AL | 1 | Dec 21, 2021 |
| RAC1 | 1 | Aug 5, 2020 |
| RAF1 | 1 | Dec 21, 2021 |
| RAI1 | 1 | Dec 21, 2021 |
| RALGAPA1 | 1 | Dec 21, 2021 |
| RAPSN | 1 | Nov 29, 2021 |
| RARS2 | 1 | Aug 5, 2020 |
| RASA1 | 2 | Dec 21, 2021 |
| RB1 | 1 | Dec 21, 2021 |
| RELB | 1 | Jul 14, 2020 |
| RELN | 3 | Dec 21, 2021 |
| RERE | 1 | Dec 21, 2021 |
| RIT1 | 1 | Aug 5, 2020 |
| RNASEH2B | 1 | Dec 21, 2021 |
| RNF13 | 1 | Dec 21, 2021 |
| ROBO3 | 2 | Aug 5, 2020 |
| RP1L1 | 1 | Dec 21, 2021 |
| RPGRIP1 | 1 | Aug 5, 2020 |
| RPL36A-HNRNPH2 | 4 | Dec 21, 2021 |
| RPS6KA3 | 2 | Dec 21, 2021 |
| RSPH4A | 2 | Dec 21, 2021 |
| RUBCN | 1 | Dec 21, 2021 |
| RYR1 | 3 | Dec 21, 2021 |
| SAMD9 | 1 | Dec 21, 2021 |
| SATB2 | 1 | Dec 21, 2021 |
| SBDS | 1 | Nov 29, 2021 |
| SC5D | 1 | Nov 4, 2022 |
| SCAMP4 | 3 | Dec 21, 2021 |
| SCN10A | 1 | Dec 21, 2021 |
| SCN1A | 2 | Dec 21, 2021 |
| SCN1A-AS1 | 1 | Dec 21, 2021 |
| SCN2A | 7 | Dec 21, 2021 |
| SCN5A | 3 | Dec 21, 2021 |
| SCN8A | 1 | Dec 21, 2021 |
| SCN9A | 1 | Dec 21, 2021 |
| SCYL1 | 1 | Aug 5, 2020 |
| SELENON | 2 | Dec 21, 2021 |
| SERPINA1 | 1 | Nov 29, 2021 |
| SERPING1 | 1 | Dec 21, 2021 |
| SETBP1 | 1 | Dec 21, 2021 |
| SETD2 | 1 | Dec 21, 2021 |
| SETD5 | 1 | Nov 4, 2022 |
| SETX | 1 | Dec 21, 2021 |
| SGCE | 1 | Dec 21, 2021 |
| SGPL1 | 1 | Aug 5, 2020 |
| SHANK2 | 2 | Dec 21, 2021 |
| SHANK3 | 5 | Dec 21, 2021 |
| SHOC2 | 1 | Dec 21, 2021 |
| SI | 1 | Jul 14, 2020 |
| SIK1 | 1 | Dec 21, 2021 |
| SLC12A3 | 3 | Dec 21, 2021 |
| SLC12A6 | 3 | Dec 21, 2021 |
| SLC19A1 | 1 | Aug 5, 2020 |
| SLC19A3 | 1 | Jul 14, 2020 |
| SLC20A2 | 1 | Dec 21, 2021 |
| SLC22A5 | 3 | Nov 4, 2022 |
| SLC25A15 | 2 | Jul 14, 2020 |
| SLC25A20 | 2 | Dec 21, 2021 |
| SLC25A42 | 1 | Aug 5, 2020 |
| SLC26A5-AS1 | 2 | Dec 21, 2021 |
| SLC34A3 | 1 | Jul 14, 2020 |
| SLC36A1 | 1 | Dec 21, 2021 |
| SLC37A4 | 3 | Jul 14, 2020 |
| SLC3A1 | 2 | Dec 21, 2021 |
| SLC5A1 | 1 | Jul 14, 2020 |
| SLC6A3 | 1 | Dec 21, 2021 |
| SLC6A8 | 1 | Aug 5, 2020 |
| SLC9A6 | 2 | Dec 21, 2021 |
| SLCO1B3 | 1 | Dec 21, 2021 |
| SLCO1B3-SLCO1B7 | 1 | Dec 21, 2021 |
| SLITRK1 | 1 | Dec 21, 2021 |
| SMAD3 | 2 | Dec 21, 2021 |
| SMARCA2 | 1 | Dec 21, 2021 |
| SMN1 | 1 | Jul 14, 2020 |
| SMPD1 | 8 | Nov 29, 2021 |
| SNCB | 1 | Dec 21, 2021 |
| SNX14 | 1 | Dec 21, 2021 |
| SOD1 | 1 | Jul 14, 2020 |
| SON | 1 | Dec 21, 2021 |
| SOX11 | 2 | Nov 4, 2022 |
| SOX4 | 1 | Dec 21, 2021 |
| SPAST | 1 | Dec 21, 2021 |
| SPATA22 | 2 | Jul 14, 2020 |
| SPG11 | 3 | Aug 5, 2020 |
| SPG7 | 3 | Dec 21, 2021 |
| SPRED1 | 1 | Dec 21, 2021 |
| SPTA1 | 3 | Nov 29, 2021 |
| SPTBN2 | 2 | Dec 21, 2021 |
| SPTLC2 | 2 | Dec 21, 2021 |
| SQSTM1 | 1 | Nov 29, 2021 |
| SRFBP1 | 1 | Aug 5, 2020 |
| STAC3 | 1 | Dec 21, 2021 |
| STAG1 | 1 | Dec 21, 2021 |
| STIM1 | 1 | Dec 21, 2021 |
| STUB1 | 2 | Dec 21, 2021 |
| STXBP1 | 1 | Dec 21, 2021 |
| STXBP2 | 1 | Jul 14, 2020 |
| SYNE1 | 3 | Dec 21, 2021 |
| SYNE2 | 1 | Dec 21, 2021 |
| SYNGAP1 | 1 | Dec 21, 2021 |
| SYT1 | 1 | Dec 21, 2021 |
| TAB2 | 1 | Aug 5, 2020 |
| TAF1 | 3 | Dec 21, 2021 |
| TANGO2 | 1 | Jul 14, 2020 |
| TBCD | 1 | Aug 5, 2020 |
| TBCE | 1 | Nov 29, 2021 |
| TBCK | 2 | Dec 21, 2021 |
| TBK1 | 2 | Dec 21, 2021 |
| TBX4 | 1 | Aug 5, 2020 |
| TCF12 | 1 | Dec 21, 2021 |
| TCF3 | 1 | Dec 21, 2021 |
| TCF4 | 5 | Nov 4, 2022 |
| TGFBR2 | 1 | Dec 21, 2021 |
| TGM6 | 1 | Dec 21, 2021 |
| TJP2 | 2 | Jul 14, 2020 |
| TLK2 | 1 | Dec 21, 2021 |
| TLR3 | 1 | Dec 21, 2021 |
| TMEM260 | 2 | Aug 5, 2020 |
| TMPRSS15 | 2 | Jul 14, 2020 |
| TNFRSF13B | 1 | Dec 21, 2021 |
| TNNI2 | 3 | Dec 21, 2021 |
| TNNT2 | 1 | Jul 14, 2020 |
| TNPO3 | 1 | Dec 21, 2021 |
| TNXB | 3 | Dec 21, 2021 |
| TP53 | 3 | Dec 21, 2021 |
| TP63 | 1 | Dec 21, 2021 |
| TPH2 | 1 | Dec 21, 2021 |
| TPM2 | 1 | Dec 21, 2021 |
| TPM3 | 1 | Aug 5, 2020 |
| TRAPPC6B | 1 | Aug 5, 2020 |
| TRAPPC9 | 2 | Dec 21, 2021 |
| TRB | 2 | Jul 14, 2020 |
| TREX1 | 2 | Dec 21, 2021 |
| TRIM71 | 1 | Dec 21, 2021 |
| TRIO | 1 | Dec 21, 2021 |
| TRIP12 | 2 | Dec 21, 2021 |
| TRIP4 | 2 | Dec 15, 2021 |
| TRMT10A | 1 | Aug 5, 2020 |
| TRMU | 1 | Jul 14, 2020 |
| TRPC6 | 1 | Dec 21, 2021 |
| TRPV4 | 2 | Dec 21, 2021 |
| TRRAP | 3 | Dec 21, 2021 |
| TSC1 | 1 | Dec 21, 2021 |
| TSC2 | 3 | Dec 21, 2021 |
| TTBK2 | 1 | Dec 21, 2021 |
| TTN | 7 | Dec 21, 2021 |
| TTN-AS1 | 2 | Dec 21, 2021 |
| TTPA | 1 | Dec 21, 2021 |
| TUBB | 1 | Dec 21, 2021 |
| TUBB4A | 1 | Dec 21, 2021 |
| TUBB6 | 1 | Dec 21, 2021 |
| UBTF | 1 | Dec 21, 2021 |
| UFM1 | 1 | Aug 5, 2020 |
| UGDH | 1 | Aug 5, 2020 |
| UGT1A | 4 | Aug 5, 2020 |
| UGT1A1 | 4 | Aug 5, 2020 |
| UGT1A10 | 4 | Aug 5, 2020 |
| UGT1A3 | 4 | Aug 5, 2020 |
| UGT1A4 | 4 | Aug 5, 2020 |
| UGT1A5 | 4 | Aug 5, 2020 |
| UGT1A6 | 4 | Aug 5, 2020 |
| UGT1A7 | 4 | Aug 5, 2020 |
| UGT1A8 | 4 | Aug 5, 2020 |
| UGT1A9 | 4 | Aug 5, 2020 |
| UNC13D | 1 | Dec 21, 2021 |
| UNC80 | 2 | Dec 21, 2021 |
| UROD | 1 | Nov 29, 2021 |
| USP9X | 2 | Dec 21, 2021 |
| VCP | 1 | Dec 21, 2021 |
| VPS13A | 2 | Dec 21, 2021 |
| VPS13B | 1 | Aug 5, 2020 |
| VRK1 | 2 | Dec 21, 2021 |
| VWF | 2 | Dec 21, 2021 |
| WAC | 1 | Dec 21, 2021 |
| WDPCP | 1 | Aug 5, 2020 |
| WDR26 | 1 | Dec 21, 2021 |
| WDR45 | 1 | Dec 21, 2021 |
| WDR62 | 2 | Dec 21, 2021 |
| WFS1 | 1 | Dec 21, 2021 |
| WWOX | 2 | Dec 21, 2021 |
| XIAP | 1 | Jul 14, 2020 |
| XRCC2 | 1 | Aug 5, 2020 |
| XYLT2 | 1 | Aug 5, 2020 |
| YY1 | 1 | Dec 21, 2021 |
| ZBTB20 | 1 | Dec 21, 2021 |
| ZBTB24 | 1 | Jul 14, 2020 |
| ZC4H2 | 1 | Dec 21, 2021 |
| ZDHHC9 | 1 | Dec 21, 2021 |
| ZEB2 | 3 | Dec 21, 2021 |
| ZIC1 | 1 | Dec 21, 2021 |
| ZMYND11 | 1 | Dec 21, 2021 |
| ZP3 | 1 | Dec 21, 2021 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 11p partial monosomy syndrome | 1 test |
| 2-aminoadipic 2-oxoadipic aciduria | 1 test |
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 9 tests |
| 3-Methylglutaconic aciduria type 2 | 7 tests |
| 3-Methylglutaconic aciduria type 3 | 1 test |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 7 tests |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 7 tests |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 8 tests |
| 3-methylglutaconic aciduria type 1 | 9 tests |
| 3-methylglutaconic aciduria type 5 | 8 tests |
| 3-methylglutaconic aciduria type 8 | 8 tests |
| 3-methylglutaconic aciduria type 9 | 5 tests |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 9 tests |
| 3-methylglutaconic aciduria, type VIIA | 1 test |
| 3-methylglutaconic aciduria, type VIIB | 1 test |
| 3M syndrome 1 | 5 tests |
| 3M syndrome 2 | 3 tests |
| 3M syndrome 3 | 1 test |
| 3MC syndrome 1 | 3 tests |
| 3MC syndrome 2 | 2 tests |
| 3MC syndrome 3 | 2 tests |
| 46,XX ovarian dysgenesis-short stature syndrome | 2 tests |
| 46,XX sex reversal 4 | 1 test |
| 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 3 tests |
| 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | 1 test |
| 46,XY sex reversal 1 | 1 test |
| 46,XY sex reversal 2 | 5 tests |
| 46,XY sex reversal 3 | 1 test |
| 46,XY sex reversal 6 | 1 test |
| 46,XY sex reversal 7 | 3 tests |
| 46,XY sex reversal 9 | 3 tests |
| 46,xx sex reversal 5 | 1 test |
| 5p partial monosomy syndrome | 1 test |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 8 tests |
| ABCD syndrome | 7 tests |
| ABri amyloidosis | 1 test |
| ACTH-independent macronodular adrenal hyperplasia 1 | 3 tests |
| ACTH-independent macronodular adrenal hyperplasia 2 | 5 tests |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 3 tests |
| ADULT syndrome | 4 tests |
| ADan amyloidosis | 5 tests |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 4 tests |
| AICA-ribosiduria | 4 tests |
| ALDH18A1-related de Barsy syndrome | 1 test |
| ALG1-congenital disorder of glycosylation | 5 tests |
| ALG11-congenital disorder of glycosylation | 7 tests |
| ALG12-congenital disorder of glycosylation | 6 tests |
| ALG2-congenital disorder of glycosylation | 1 test |
| ALG3-congenital disorder of glycosylation | 6 tests |
| ALG6-congenital disorder of glycosylation 1C | 5 tests |
| ALG8 congenital disorder of glycosylation | 4 tests |
| ALG9 congenital disorder of glycosylation | 1 test |
| Aarskog syndrome | 4 tests |
| Abdominal obesity-metabolic syndrome 3 | 2 tests |
| Abetalipoproteinaemia | 5 tests |
| Ablepharon macrostomia syndrome | 1 test |
| Abortive cerebellar ataxia | 9 tests |
| Abruzzo-Erickson syndrome | 1 test |
| Absence seizure | 1 test |
| Acatalasia | 3 tests |
| Accelerated tumor formation, susceptibility to | 1 test |
| Acetyl-CoA: carboxylase deficiency | 3 tests |
| Achondrogenesis type II | 1 test |
| Achondrogenesis, type IA | 4 tests |
| Achondrogenesis, type IB | 1 test |
| Achondroplasia | 1 test |
| Achromatopsia 2 | 2 tests |
| Achromatopsia 3 | 5 tests |
| Achromatopsia 4 | 2 tests |
| Achromatopsia 7 | 2 tests |
| Acne inversa, familial, 1 | 2 tests |
| Acne inversa, familial, 2 | 2 tests |
| Acne inversa, familial, 3 | 1 test |
| Acquired hemoglobin H disease | 12 tests |
| Acral peeling skin syndrome | 2 tests |
| Acrocallosal syndrome | 10 tests |
| Acrocapitofemoral dysplasia | 4 tests |
| Acrocephalosyndactyly type I | 1 test |
| Acrodermatitis continua suppurativa of Hallopeau | 2 tests |
| Acrodysostosis 1 with or without hormone resistance | 8 tests |
| Acrodysostosis 2 with or without hormone resistance | 5 tests |
| Acroerythrokeratoderma | 1 test |
| Acrokeratosis verruciformis of Hopf | 1 test |
| Acromelic frontonasal dysostosis | 1 test |
| Acromesomelic dysplasia 1, Maroteaux type | 1 test |
| Acromesomelic dysplasia 2B | 1 test |
| Acromesomelic dysplasia 3 | 1 test |
| Acromicric dysplasia | 2 tests |
| Acroosteolysis-keloid-like lesions-premature aging syndrome | 1 test |
| Actin accumulation myopathy | 6 tests |
| Action myoclonus-renal failure syndrome | 6 tests |
| Acute febrile neutrophilic dermatosis | 2 tests |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 1 test |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 4 tests |
| Acute intermittent porphyria | 6 tests |
| Acute lymphoid leukemia | 8 tests |
| Acute myeloid leukemia | 7 tests |
| Acute necrotizing encephalopathy of childhood | 1 test |
| Acute promyelocytic leukemia | 1 test |
| Acyl-CoA dehydrogenase 9 deficiency | 9 tests |
| Acyl-CoA oxidase deficiency | 1 test |
| Adams-Oliver syndrome 1 | 8 tests |
| Adams-Oliver syndrome 2 | 5 tests |
| Adams-Oliver syndrome 3 | 2 tests |
| Adams-Oliver syndrome 4 | 4 tests |
| Adams-Oliver syndrome 5 | 3 tests |
| Adams-Oliver syndrome 6 | 4 tests |
| Adenine phosphoribosyltransferase deficiency | 1 test |
| Adenosine kinase deficiency | 5 tests |
| Adenylosuccinate lyase deficiency | 7 tests |
| Adermatoglyphia | 1 test |
| Adrenocortical carcinoma, hereditary | 8 tests |
| Adrenoleukodystrophy | 12 tests |
| Adult hepatocellular carcinoma | 3 tests |
| Adult hypophosphatasia | 9 tests |
| Adult polyglucosan body disease | 10 tests |
| Adult-onset autosomal dominant demyelinating leukodystrophy | 1 test |
| Adult-onset proximal spinal muscular atrophy, autosomal dominant | 1 test |
| Advanced sleep phase syndrome 1 | 3 tests |
| Agammaglobulinemia 2, autosomal recessive | 2 tests |
| Agammaglobulinemia 3, autosomal recessive | 3 tests |
| Agammaglobulinemia 4, autosomal recessive | 3 tests |
| Agammaglobulinemia 5, autosomal dominant | 2 tests |
| Agammaglobulinemia 6, autosomal recessive | 3 tests |
| Agammaglobulinemia 7, autosomal recessive | 1 test |
| Agammaglobulinemia 8, autosomal dominant | 1 test |
| Agammaglobulinemia 8b, autosomal recessive | 1 test |
| Age related macular degeneration 1 | 2 tests |
| Age related macular degeneration 12 | 1 test |
| Age related macular degeneration 13 | 1 test |
| Age related macular degeneration 14 | 3 tests |
| Age related macular degeneration 15 | 1 test |
| Age related macular degeneration 2 | 1 test |
| Age related macular degeneration 5 | 1 test |
| Age related macular degeneration 6 | 2 tests |
| Age related macular degeneration 7 | 4 tests |
| Age related macular degeneration 9 | 1 test |
| Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | 1 test |
| Agenesis of the corpus callosum with peripheral neuropathy | 5 tests |
| Aggressive systemic mastocytosis | 1 test |
| Agnathia-otocephaly complex | 1 test |
| Aicardi Goutieres syndrome | 1 test |
| Aicardi-Goutieres syndrome 1 | 1 test |
| Aicardi-Goutieres syndrome 2 | 10 tests |
| Aicardi-Goutieres syndrome 3 | 7 tests |
| Aicardi-Goutieres syndrome 4 | 8 tests |
| Aicardi-Goutieres syndrome 5 | 7 tests |
| Aicardi-Goutieres syndrome 6 | 2 tests |
| Aicardi-Goutieres syndrome 7 | 1 test |
| Alacrima, achalasia, and intellectual disability syndrome | 6 tests |
| Alagille syndrome due to a JAG1 point mutation | 1 test |
| Alagille syndrome due to a NOTCH2 point mutation | 2 tests |
| Alazami-Yuan syndrome | 4 tests |
| Alcohol dependence | 1 test |
| Alcohol sensitivity, acute | 3 tests |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 test |
| Alexander disease | 8 tests |
| Alkaptonuria | 5 tests |
| Alkuraya-Kucinskas syndrome | 3 tests |
| Allan-Herndon-Dudley syndrome | 8 tests |
| Alobar holoprosencephaly | 1 test |
| Alopecia universalis congenita | 1 test |
| Alopecia-intellectual disability syndrome 4 | 1 test |
| Alpha mannosidosis type II | 6 tests |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 test |
| Alpha-1-antitrypsin deficiency | 5 tests |
| Alpha-2-plasmin inhibitor deficiency | 2 tests |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 12 tests |
| Alpha-N-acetylgalactosaminidase deficiency type 2 | 1 test |
| Alpha-methylacyl-CoA racemase deficiency | 5 tests |
| Alternating hemiplegia of childhood 1 | 1 test |
| Alternating hemiplegia of childhood 2 | 1 test |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 2 tests |
| Alveolar rhabdomyosarcoma | 5 tests |
| Alzheimer disease 2 | 6 tests |
| Alzheimer disease 3 | 7 tests |
| Alzheimer disease 4 | 1 test |
| Alzheimer disease 9 | 3 tests |
| Alzheimer disease type 1 | 5 tests |
| Amelocerebrohypohidrotic syndrome | 3 tests |
| Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 1 test |
| Amelogenesis imperfecta type 1A | 1 test |
| Amelogenesis imperfecta type 1C | 1 test |
| Amelogenesis imperfecta type 1E | 2 tests |
| Amelogenesis imperfecta type 1H | 1 test |
| Aminoacylase 1 deficiency | 5 tests |
| Aminoglycoside-induced deafness | 7 tests |
| Amish lethal microcephaly | 9 tests |
| Amyloidosis, hereditary systemic 1 | 5 tests |
| Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia | 1 test |
| Amyotrophic lateral sclerosis type 1 | 9 tests |
| Amyotrophic lateral sclerosis type 10 | 3 tests |
| Amyotrophic lateral sclerosis type 11 | 1 test |
| Amyotrophic lateral sclerosis type 12 | 4 tests |
| Amyotrophic lateral sclerosis type 15 | 3 tests |
| Amyotrophic lateral sclerosis type 16 | 1 test |
| Amyotrophic lateral sclerosis type 18 | 3 tests |
| Amyotrophic lateral sclerosis type 19 | 4 tests |
| Amyotrophic lateral sclerosis type 2, juvenile | 1 test |
| Amyotrophic lateral sclerosis type 20 | 2 tests |
| Amyotrophic lateral sclerosis type 21 | 4 tests |
| Amyotrophic lateral sclerosis type 22 | 6 tests |
| Amyotrophic lateral sclerosis type 23 | 1 test |
| Amyotrophic lateral sclerosis type 4 | 6 tests |
| Amyotrophic lateral sclerosis type 5 | 1 test |
| Amyotrophic lateral sclerosis type 6 | 4 tests |
| Amyotrophic lateral sclerosis type 8 | 4 tests |
| Amyotrophic lateral sclerosis type 9 | 3 tests |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 7 tests |
| Amyotrophic lateral sclerosis, susceptibility to, 25 | 1 test |
| Amyotrophic neuralgia | 1 test |
| Anaplastic oligoastrocytoma | 2 tests |
| Anauxetic dysplasia 2 | 3 tests |
| Anauxetic dysplasia 3 | 2 tests |
| Andersen Tawil syndrome | 4 tests |
| Androgen resistance syndrome | 3 tests |
| Anemia, congenital dyserythropoietic, type 1a | 2 tests |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 10 tests |
| Aneurysm-osteoarthritis syndrome | 4 tests |
| Angelman syndrome | 6 tests |
| Angelman syndrome due to imprinting defect in 15q11-q13 | 1 test |
| Angioedema, hereditary, 4 | 1 test |
| Aniridia 1 | 1 test |
| Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | 1 test |
| Annular epidermolytic ichthyosis | 2 tests |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 10 tests |
| Anterior segment dysgenesis 1 | 1 test |
| Anterior segment dysgenesis 4 | 1 test |
| Anterior segment dysgenesis 6 | 4 tests |
| Anterior segment dysgenesis 7 | 5 tests |
| Antigen in Cartwright blood group system | 3 tests |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 6 tests |
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 1 test |
| Anxiety | 3 tests |
| Aortic aneurysm, familial thoracic 10 | 3 tests |
| Aortic aneurysm, familial thoracic 4 | 1 test |
| Aortic aneurysm, familial thoracic 6 | 1 test |
| Aortic aneurysm, familial thoracic 7 | 1 test |
| Aortic aneurysm, familial thoracic 8 | 4 tests |
| Aortic aneurysm, familial thoracic 9 | 4 tests |
| Aortic valve disease 1 | 7 tests |
| Aortic valve disease 3 | 2 tests |
| Aplastic anemia | 13 tests |
| Apolipoprotein c-III deficiency | 2 tests |
| Apparent mineralocorticoid excess | 2 tests |
| Arginase deficiency | 7 tests |
| Arginine:glycine amidinotransferase deficiency | 1 test |
| Argininosuccinate lyase deficiency | 6 tests |
| Ariboflavinosis | 2 tests |
| Aromatase deficiency | 6 tests |
| Aromatase excess syndrome | 1 test |
| Arrhinia with choanal atresia and microphthalmia syndrome | 1 test |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 1 test |
| Arrhythmogenic right ventricular dysplasia 1 | 6 tests |
| Arrhythmogenic right ventricular dysplasia 10 | 1 test |
| Arrhythmogenic right ventricular dysplasia 11 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 12 | 1 test |
| Arrhythmogenic right ventricular dysplasia 13 | 4 tests |
| Arrhythmogenic right ventricular dysplasia 2 | 1 test |
| Arrhythmogenic right ventricular dysplasia 5 | 1 test |
| Arrhythmogenic right ventricular dysplasia 8 | 1 test |
| Arrhythmogenic right ventricular dysplasia 9 | 1 test |
| Arrhythmogenic right ventricular dysplasia, familial, 14 | 2 tests |
| Arterial calcification, generalized, of infancy, 1 | 5 tests |
| Arterial calcification, generalized, of infancy, 2 | 1 test |
| Arterial tortuosity syndrome | 5 tests |
| Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 3 tests |
| Arthrogryposis multiplex congenita 3, myogenic type | 1 test |
| Arthrogryposis multiplex congenita 5 | 4 tests |
| Arthrogryposis multiplex congenita 6 | 5 tests |
| Arthrogryposis, Perthes disease, and upward gaze palsy | 1 test |
| Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 3 tests |
| Arthrogryposis, distal, IIa 11 | 1 test |
| Arthrogryposis, distal, type 1A | 1 test |
| Arthrogryposis, distal, type 1B | 1 test |
| Arthrogryposis, distal, type 2B2 | 4 tests |
| Arthrogryposis, distal, type 2B3 | 1 test |
| Arthrogryposis, distal, with impaired proprioception and touch | 4 tests |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 8 tests |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | 7 tests |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 test |
| Aspartylglucosaminuria | 6 tests |
| Asperger syndrome, X-linked, susceptibility to, 1 | 3 tests |
| Asperger syndrome, X-linked, susceptibility to, 2 | 1 test |
| Asphyxiating thoracic dystrophy 2 | 4 tests |
| Asphyxiating thoracic dystrophy 3 | 6 tests |
| Asphyxiating thoracic dystrophy 4 | 1 test |
| Asphyxiating thoracic dystrophy 5 | 1 test |
| Astrocytoma, anaplastic | 2 tests |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 5 tests |
| Ataxia - oculomotor apraxia type 4 | 3 tests |
| Ataxia with oculomotor apraxia type 3 | 5 tests |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 9 tests |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 1 test |
| Ataxia-pancytopenia syndrome | 2 tests |
| Ataxia-telangiectasia syndrome | 17 tests |
| Ataxia-telangiectasia-like disorder 1 | 10 tests |
| Ataxia-telangiectasia-like disorder 2 | 1 test |
| Atelosteogenesis type I | 4 tests |
| Atelosteogenesis type II | 7 tests |
| Atelosteogenesis type III | 1 test |
| Atrial conduction disease | 2 tests |
| Atrial fibrillation, familial, 10 | 1 test |
| Atrial fibrillation, familial, 11 | 1 test |
| Atrial fibrillation, familial, 12 | 2 tests |
| Atrial fibrillation, familial, 14 | 2 tests |
| Atrial fibrillation, familial, 18 | 2 tests |
| Atrial fibrillation, familial, 4 | 1 test |
| Atrial fibrillation, familial, 6 | 1 test |
| Atrial fibrillation, familial, 7 | 3 tests |
| Atrial fibrillation, familial, 9 | 2 tests |
| Atrial septal defect 2 | 4 tests |
| Atrial septal defect 3 | 1 test |
| Atrial septal defect 4 | 1 test |
| Atrial septal defect 5 | 1 test |
| Atrial septal defect 6 | 2 tests |
| Atrial septal defect 7 | 2 tests |
| Atrial septal defect 8 | 1 test |
| Atrial septal defect 9 | 1 test |
| Atrial standstill 1 | 2 tests |
| Atrial standstill 2 | 2 tests |
| Atrichia with papular lesions | 1 test |
| Atrioventricular septal defect 5 | 1 test |
| Atrioventricular septal defect, susceptibility to, 2 | 5 tests |
| Attention deficit-hyperactivity disorder 8 | 1 test |
| Atypical glycine encephalopathy | 3 tests |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 1 test |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 3 tests |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 3 tests |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 2 tests |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 4 tests |
| Auditory neuropathy, autosomal dominant 3 | 1 test |
| Auditory neuropathy-optic atrophy syndrome | 6 tests |
| Auriculocondylar syndrome 1 | 1 test |
| Auriculocondylar syndrome 2 | 2 tests |
| Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 4 tests |
| Autism spectrum disorder due to AUTS2 deficiency | 2 tests |
| Autism, susceptibility to, 15 | 4 tests |
| Autism, susceptibility to, 16 | 2 tests |
| Autism, susceptibility to, 17 | 2 tests |
| Autism, susceptibility to, 5 | 2 tests |
| Autism, susceptibility to, X-linked 1 | 1 test |
| Autism, susceptibility to, X-linked 2 | 3 tests |
| Autism, susceptibility to, X-linked 3 | 7 tests |
| Autism, susceptibility to, X-linked 4 | 2 tests |
| Autism, susceptibility to, X-linked 5 | 1 test |
| Autoimmune disease, multisystem, infantile-onset, 2 | 1 test |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 test |
| Autoimmune interstitial lung disease-arthritis syndrome | 2 tests |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 1 test |
| Autoimmune lymphoproliferative syndrome type 1 | 8 tests |
| Autoimmune lymphoproliferative syndrome type 2A | 1 test |
| Autoimmune lymphoproliferative syndrome type 2B | 1 test |
| Autoimmune lymphoproliferative syndrome type 4 | 6 tests |
| Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 3 tests |
| Autoimmune thrombocytopenic purpura | 2 tests |
| Autoimmune thyroid disease, susceptibility to, 3 | 3 tests |
| Autoinflammation with arthritis and dyskeratosis | 1 test |
| Autoinflammation with episodic fever and lymphadenopathy | 1 test |
| Autoinflammation, immune dysregulation, and eosinophilia | 1 test |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 5 tests |
| Autoinflammatory disease, X-linked | 1 test |
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | 1 test |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 2 tests |
| Autosomal dominant Alport syndrome | 1 test |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | 3 tests |
| Autosomal dominant Kenny-Caffey syndrome | 1 test |
| Autosomal dominant Parkinson disease 1 | 1 test |
| Autosomal dominant Parkinson disease 4 | 4 tests |
| Autosomal dominant Parkinson disease 8 | 3 tests |
| Autosomal dominant Robinow syndrome 1 | 6 tests |
| Autosomal dominant Robinow syndrome 3 | 4 tests |
| Autosomal dominant aplasia and myelodysplasia | 2 tests |
| Autosomal dominant auditory neuropathy 1 | 2 tests |
| Autosomal dominant centronuclear myopathy | 6 tests |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 6 tests |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 test |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 test |
| Autosomal dominant deafness - onychodystrophy syndrome | 1 test |
| Autosomal dominant distal renal tubular acidosis | 1 test |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 test |
| Autosomal dominant hypocalcemia 1 | 8 tests |
| Autosomal dominant hypocalcemia 2 | 4 tests |
| Autosomal dominant hypophosphatemic rickets | 7 tests |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 4 tests |
| Autosomal dominant isolated somatotropin deficiency | 1 test |
| Autosomal dominant keratitis | 1 test |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 1 test |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 3 tests |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 3 tests |
| Autosomal dominant limb-girdle muscular dystrophy type 1G | 3 tests |
| Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 2 tests |
| Autosomal dominant mitochondrial myopathy with exercise intolerance | 3 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 3 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 3 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 3 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 5 tests |
| Autosomal dominant non-syndromic intellectual disability | 3 tests |
| Autosomal dominant nonsyndromic hearing loss 1 | 7 tests |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 13 | 8 tests |
| Autosomal dominant nonsyndromic hearing loss 15 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 25 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 27 | 3 tests |
| Autosomal dominant nonsyndromic hearing loss 28 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 2A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 2B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 36 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 3B | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 40 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 41 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 44 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 4A | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 4B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 56 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 6 | 11 tests |
| Autosomal dominant nonsyndromic hearing loss 64 | 6 tests |
| Autosomal dominant nonsyndromic hearing loss 65 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 66 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 67 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 68 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 69 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 70 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 9 | 2 tests |
| Autosomal dominant optic atrophy classic form | 1 test |
| Autosomal dominant popliteal pterygium syndrome | 3 tests |
| Autosomal dominant pseudohypoaldosteronism type 1 | 6 tests |
| Autosomal dominant sensory ataxia 1 | 1 test |
| Autosomal dominant sideroblastic anemia | 5 tests |
| Autosomal dominant slowed nerve conduction velocity | 3 tests |
| Autosomal dominant striatal neurodegeneration type 1 | 1 test |
| Autosomal dominant vitreoretinochoroidopathy | 1 test |
| Autosomal dominant wooly hair | 1 test |
| Autosomal recessive Alport syndrome | 6 tests |
| Autosomal recessive DOPA responsive dystonia | 5 tests |
| Autosomal recessive Kenny-Caffey syndrome | 5 tests |
| Autosomal recessive Parkinson disease 14 | 1 test |
| Autosomal recessive Robinow syndrome | 8 tests |
| Autosomal recessive amelia | 1 test |
| Autosomal recessive ataxia due to ubiquinone deficiency | 8 tests |
| Autosomal recessive ataxia, Beauce type | 10 tests |
| Autosomal recessive axonal neuropathy with neuromyotonia | 4 tests |
| Autosomal recessive bestrophinopathy | 1 test |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 1 test |
| Autosomal recessive complex spastic paraplegia type 9B | 1 test |
| Autosomal recessive congenital ichthyosis 1 | 4 tests |
| Autosomal recessive congenital ichthyosis 10 | 3 tests |
| Autosomal recessive congenital ichthyosis 11 | 2 tests |
| Autosomal recessive congenital ichthyosis 2 | 3 tests |
| Autosomal recessive congenital ichthyosis 3 | 3 tests |
| Autosomal recessive congenital ichthyosis 4A | 1 test |
| Autosomal recessive congenital ichthyosis 4B | 4 tests |
| Autosomal recessive congenital ichthyosis 5 | 3 tests |
| Autosomal recessive congenital ichthyosis 6 | 3 tests |
| Autosomal recessive congenital ichthyosis 8 | 3 tests |
| Autosomal recessive congenital ichthyosis 9 | 3 tests |
| Autosomal recessive cutis laxa type 2B | 2 tests |
| Autosomal recessive cutis laxa type 2C | 3 tests |
| Autosomal recessive cutis laxa type 2D | 5 tests |
| Autosomal recessive distal spinal muscular atrophy 1 | 1 test |
| Autosomal recessive distal spinal muscular atrophy 2 | 3 tests |
| Autosomal recessive early-onset Parkinson disease 23 | 3 tests |
| Autosomal recessive early-onset Parkinson disease 6 | 3 tests |
| Autosomal recessive early-onset Parkinson disease 7 | 4 tests |
| Autosomal recessive hypophosphatemic bone disease | 5 tests |
| Autosomal recessive inherited pseudoxanthoma elasticum | 10 tests |
| Autosomal recessive juvenile Parkinson disease 2 | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 5 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 5 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 8 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 6 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 5 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2R1 | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 6 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 6 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2X | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2Y | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 3 tests |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 3 tests |
| Autosomal recessive multiple pterygium syndrome | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 101 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 102 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 103 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 12 | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 16 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 18A | 5 tests |
| Autosomal recessive nonsyndromic hearing loss 18B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 1A | 8 tests |
| Autosomal recessive nonsyndromic hearing loss 1B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 2 | 9 tests |
| Autosomal recessive nonsyndromic hearing loss 21 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 25 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 26 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 28 | 3 tests |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 31 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 32 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 35 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 36 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 37 | 3 tests |
| Autosomal recessive nonsyndromic hearing loss 39 | 3 tests |
| Autosomal recessive nonsyndromic hearing loss 4 | 6 tests |
| Autosomal recessive nonsyndromic hearing loss 42 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 44 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 48 | 5 tests |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 53 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 59 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 6 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 61 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 63 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 66 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 68 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 7 | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 70 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 74 | 5 tests |
| Autosomal recessive nonsyndromic hearing loss 76 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 77 | 3 tests |
| Autosomal recessive nonsyndromic hearing loss 79 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 86 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 88 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 89 | 5 tests |
| Autosomal recessive nonsyndromic hearing loss 9 | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 91 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 93 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 97 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 98 | 1 test |
| Autosomal recessive omodysplasia | 6 tests |
| Autosomal recessive optic atrophy, OPA7 type | 7 tests |
| Autosomal recessive osteopetrosis 1 | 7 tests |
| Autosomal recessive osteopetrosis 2 | 4 tests |
| Autosomal recessive osteopetrosis 5 | 4 tests |
| Autosomal recessive osteopetrosis 6 | 2 tests |
| Autosomal recessive osteopetrosis 8 | 5 tests |
| Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | 2 tests |
| Autosomal recessive proximal renal tubular acidosis | 5 tests |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 1 test |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 3 tests |
| Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 4 tests |
| Autosomal recessive spastic paraplegia type 76 | 5 tests |
| Autosomal recessive spastic paraplegia type 78 | 1 test |
| Autosomal recessive spinocerebellar ataxia 10 | 4 tests |
| Autosomal recessive spinocerebellar ataxia 12 | 7 tests |
| Autosomal recessive spinocerebellar ataxia 13 | 4 tests |
| Autosomal recessive spinocerebellar ataxia 14 | 1 test |
| Autosomal recessive spinocerebellar ataxia 15 | 4 tests |
| Autosomal recessive spinocerebellar ataxia 16 | 3 tests |
| Autosomal recessive spinocerebellar ataxia 17 | 4 tests |
| Autosomal recessive spinocerebellar ataxia 18 | 5 tests |
| Autosomal recessive spinocerebellar ataxia 2 | 5 tests |
| Autosomal recessive spinocerebellar ataxia 20 | 4 tests |
| Autosomal recessive spinocerebellar ataxia 7 | 9 tests |
| Autosomal recessive spondylometaphyseal dysplasia, Megarbane type | 3 tests |
| Autosomal systemic lupus erythematosus type 16 | 2 tests |
| Avascular necrosis of femoral head, primary, 1 | 1 test |
| Avascular necrosis of femoral head, primary, 2 | 1 test |
| Axenfeld-Rieger syndrome type 1 | 6 tests |
| Axenfeld-Rieger syndrome type 3 | 6 tests |
| Ayme-Gripp syndrome | 3 tests |
| Azorean disease | 3 tests |
| B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | 1 test |
| B4GALT1-congenital disorder of glycosylation | 5 tests |
| BAP1-related tumor predisposition syndrome | 4 tests |
| BDV syndrome | 1 test |
| BENTA disease | 4 tests |
| BLOOD GROUP, EMM SYSTEM | 1 test |
| BLOOD GROUP--DIEGO SYSTEM | 1 test |
| BLOOD GROUP--FROESE | 1 test |
| BLOOD GROUP--LUTHERAN INHIBITOR | 1 test |
| BLOOD GROUP--SWANN SYSTEM | 1 test |
| BLOOD GROUP--WALDNER TYPE | 1 test |
| BLOOD GROUP--WRIGHT ANTIGEN | 1 test |
| BNAR syndrome | 5 tests |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 | 1 test |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 2 tests |
| Bailey-Bloch congenital myopathy | 3 tests |
| Bamforth-Lazarus syndrome | 2 tests |
| Band heterotopia of brain | 3 tests |
| Baraitser-Winter syndrome 1 | 5 tests |
| Baraitser-winter syndrome 2 | 4 tests |
| Barber-Say syndrome | 1 test |
| Bardet-Biedl syndrome 1 | 13 tests |
| Bardet-Biedl syndrome 10 | 11 tests |
| Bardet-Biedl syndrome 11 | 11 tests |
| Bardet-Biedl syndrome 12 | 11 tests |
| Bardet-Biedl syndrome 13 | 9 tests |
| Bardet-Biedl syndrome 14 | 6 tests |
| Bardet-Biedl syndrome 15 | 5 tests |
| Bardet-Biedl syndrome 16 | 1 test |
| Bardet-Biedl syndrome 17 | 8 tests |
| Bardet-Biedl syndrome 19 | 8 tests |
| Bardet-Biedl syndrome 2 | 3 tests |
| Bardet-Biedl syndrome 20 | 1 test |
| Bardet-Biedl syndrome 3 | 11 tests |
| Bardet-Biedl syndrome 4 | 12 tests |
| Bardet-Biedl syndrome 5 | 10 tests |
| Bardet-Biedl syndrome 6 | 13 tests |
| Bardet-Biedl syndrome 7 | 11 tests |
| Bardet-Biedl syndrome 8 | 1 test |
| Bardet-Biedl syndrome 9 | 11 tests |
| Bardet-biedl syndrome 21 | 6 tests |
| Barrett esophagus | 3 tests |
| Bartsocas-Papas syndrome 1 | 1 test |
| Bartter disease type 1 | 4 tests |
| Bartter disease type 2 | 4 tests |
| Bartter disease type 4A | 7 tests |
| Bartter disease type 4B | 4 tests |
| Basal cell carcinoma, susceptibility to, 1 | 3 tests |
| Basal cell carcinoma, susceptibility to, 7 | 8 tests |
| Basal ganglia calcification, idiopathic, 4 | 1 test |
| Basal ganglia calcification, idiopathic, 5 | 2 tests |
| Basal ganglia calcification, idiopathic, 6 | 3 tests |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 3 tests |
| Basal ganglia calcification, idiopathic, 8, autosomal recessive | 2 tests |
| Basan syndrome | 1 test |
| Beare-Stevenson cutis gyrata syndrome | 1 test |
| Becker muscular dystrophy | 7 tests |
| Beckwith-Wiedemann syndrome | 9 tests |
| Benign concentric annular macular dystrophy | 2 tests |
| Benign familial hematuria | 6 tests |
| Benign hereditary chorea | 1 test |
| Benign recurrent intrahepatic cholestasis type 1 | 4 tests |
| Benign recurrent intrahepatic cholestasis type 2 | 1 test |
| Bent bone dysplasia syndrome 1 | 1 test |
| Bernard Soulier syndrome | 5 tests |
| Bernard-Soulier syndrome, type A2, autosomal dominant | 1 test |
| Beta-D-mannosidosis | 12 tests |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 8 tests |
| Beta-thalassemia HBB/LCRB | 2 tests |
| Beta-thalassemia-X-linked thrombocytopenia syndrome | 1 test |
| Bethlem myopathy 1A | 7 tests |
| Bethlem myopathy 2 | 5 tests |
| Bietti crystalline corneoretinal dystrophy | 2 tests |
| Bifunctional peroxisomal enzyme deficiency | 9 tests |
| Bilateral frontoparietal polymicrogyria | 7 tests |
| Bilateral parasagittal parieto-occipital polymicrogyria | 7 tests |
| Bile acid conjugation defect 1 | 2 tests |
| Bilirubin, serum level of, quantitative trait locus 1 | 7 tests |
| Biotin-responsive basal ganglia disease | 9 tests |
| Biotinidase deficiency | 10 tests |
| Birk-Barel syndrome | 3 tests |
| Birt-Hogg-Dube syndrome | 4 tests |
| Blau syndrome | 1 test |
| Bleeding disorder, platelet-type, 13, susceptibility to | 1 test |
| Bleeding disorder, platelet-type, 21 | 3 tests |
| Bleeding disorder, platelet-type, 24 | 4 tests |
| Blepharocheilodontic syndrome 1 | 1 test |
| Blepharocheilodontic syndrome 2 | 2 tests |
| Blepharophimosis - intellectual disability syndrome, MKB type | 2 tests |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 test |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 test |
| Blepharophimosis-impaired intellectual development syndrome | 4 tests |
| Blood group, Gerbich system | 2 tests |
| Blood group, I system | 2 tests |
| Bloom syndrome | 7 tests |
| Body mass index quantitative trait locus 12 | 5 tests |
| Body mass index quantitative trait locus 18 | 1 test |
| Body mass index quantitative trait locus 4 | 2 tests |
| Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 3 tests |
| Bohring-Opitz syndrome | 1 test |
| Bone marrow failure syndrome 3 | 3 tests |
| Bone marrow failure syndrome 4 | 2 tests |
| Bone marrow failure syndrome 5 | 8 tests |
| Bone marrow failure syndrome 6 | 1 test |
| Bone mineral density quantitative trait locus 18 | 2 tests |
| Bone osteosarcoma | 11 tests |
| Boomerang dysplasia | 1 test |
| Borjeson-Forssman-Lehmann syndrome | 9 tests |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 6 tests |
| Bothnia retinal dystrophy | 6 tests |
| Brachydactyly type A1A | 1 test |
| Brachydactyly type A1C | 1 test |
| Brachydactyly type A1D | 5 tests |
| Brachydactyly type B1 | 1 test |
| Brachydactyly type B2 | 1 test |
| Brachydactyly type C | 1 test |
| Brachydactyly type E1 | 3 tests |
| Brachydactyly type E2 | 4 tests |
| Brachyolmia-amelogenesis imperfecta syndrome | 2 tests |
| Brachyrachia (short spine dysplasia) | 1 test |
| Bradyopsia | 3 tests |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 2 tests |
| Brain small vessel disease 1 with or without ocular anomalies | 14 tests |
| Brain small vessel disease 3 | 4 tests |
| Brain-lung-thyroid syndrome | 3 tests |
| Branched-chain keto acid dehydrogenase kinase deficiency | 5 tests |
| Branchiogenic deafness syndrome | 1 test |
| Branchiooculofacial syndrome | 6 tests |
| Branchiootic syndrome 1 | 6 tests |
| Branchiootic syndrome 3 | 4 tests |
| Branchiootorenal syndrome 1 | 1 test |
| Branchiootorenal syndrome 2 | 4 tests |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 12 tests |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 12 tests |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 7 tests |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 4 tests |
| Breasts and/or nipples, aplasia or hypoplasia of, 2 | 1 test |
| Brittle cornea syndrome 1 | 3 tests |
| Brittle cornea syndrome 2 | 3 tests |
| Brody myopathy | 3 tests |
| Bronchiectasis with or without elevated sweat chloride 1 | 3 tests |
| Bronchiectasis with or without elevated sweat chloride 2 | 4 tests |
| Bronchiectasis with or without elevated sweat chloride 3 | 4 tests |
| Brooke-Spiegler syndrome | 3 tests |
| Brown-Vialetto-van Laere syndrome 1 | 8 tests |
| Brown-Vialetto-van Laere syndrome 2 | 8 tests |
| Bruck syndrome 1 | 8 tests |
| Bruck syndrome 2 | 7 tests |
| Brugada syndrome | 1 test |
| Brugada syndrome 1 | 1 test |
| Brugada syndrome 2 | 2 tests |
| Brugada syndrome 3 | 1 test |
| Brugada syndrome 4 | 5 tests |
| Brugada syndrome 6 | 4 tests |
| Brugada syndrome 7 | 2 tests |
| Brugada syndrome 8 | 1 test |
| Brugada syndrome 9 | 1 test |
| Brunner syndrome | 4 tests |
| Bryant-Li-Bhoj neurodevelopmental syndrome 1 | 1 test |
| Budd-Chiari syndrome | 3 tests |
| Burkitt lymphoma | 1 test |
| C syndrome | 3 tests |
| C1 inhibitor deficiency | 2 tests |
| C1Q deficiency | 4 tests |
| C3 glomerulonephritis | 1 test |
| CBL-related disorder | 3 tests |
| CCDC115-CDG | 3 tests |
| CEDNIK syndrome | 8 tests |
| CFHR5 deficiency | 2 tests |
| CHARGE syndrome | 5 tests |
| CHIME syndrome | 3 tests |
| CK syndrome | 1 test |
| CLAPO syndrome | 1 test |
| CLOVES syndrome | 1 test |
| COACH syndrome 1 | 1 test |
| COACH syndrome 2 | 11 tests |
| CODAS syndrome | 3 tests |
| COG1 congenital disorder of glycosylation | 6 tests |
| COG4-congenital disorder of glycosylation | 1 test |
| COG5-congenital disorder of glycosylation | 6 tests |
| COG6-congenital disorder of glycosylation | 6 tests |
| COG7 congenital disorder of glycosylation | 6 tests |
| COG8-congenital disorder of glycosylation | 5 tests |
| COPD, severe early onset | 3 tests |
| CYP2C19-related poor drug metabolism | 1 test |
| Café-au-lait macules with pulmonary stenosis | 2 tests |
| Calvarial doughnut lesions-bone fragility syndrome | 2 tests |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 1 test |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 test |
| Camptomelic dysplasia | 7 tests |
| Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | 3 tests |
| Candidiasis, familial, 9 | 2 tests |
| Capillary infantile hemangioma | 2 tests |
| Capillary malformation-arteriovenous malformation 1 | 4 tests |
| Capillary malformation-arteriovenous malformation 2 | 1 test |
| Carcinoma of pancreas | 8 tests |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 5 tests |
| Cardiac arrhythmia, ankyrin-B-related | 4 tests |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 5 tests |
| Cardiac valvular dysplasia, X-linked | 1 test |
| Cardiac, facial, and digital anomalies with developmental delay | 3 tests |
| Cardiac-urogenital syndrome | 2 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 10 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 9 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | 4 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 5 tests |
| Cardiofaciocutaneous syndrome 2 | 3 tests |
| Cardiofaciocutaneous syndrome 3 | 2 tests |
| Cardiofaciocutaneous syndrome 4 | 7 tests |
| Cardiomyopathy, dilated, 2E | 1 test |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 4 tests |
| Cardiomyopathy, familial hypertrophic 27 | 1 test |
| Cardiomyopathy, familial restrictive, 1 | 1 test |
| Cardiomyopathy, familial restrictive, 3 | 1 test |
| Cardiomyopathy-hypotonia-lactic acidosis syndrome | 7 tests |
| Cardiospondylocarpofacial syndrome | 1 test |
| Carney complex - trismus - pseudocamptodactyly syndrome | 4 tests |
| Carney complex, type 1 | 2 tests |
| Carney-Stratakis syndrome | 5 tests |
| Carnitine acylcarnitine translocase deficiency | 7 tests |
| Carnitine palmitoyl transferase 1A deficiency | 8 tests |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 1 test |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 10 tests |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 1 test |
| Carotid intimal medial thickness 1 | 1 test |
| Carpal tunnel syndrome 1 | 1 test |
| Carpal tunnel syndrome 2 | 1 test |
| Cataract 1 multiple types | 2 tests |
| Cataract 10 multiple types | 2 tests |
| Cataract 11 multiple types | 2 tests |
| Cataract 12 multiple types | 2 tests |
| Cataract 13 with adult I phenotype | 1 test |
| Cataract 14 multiple types | 2 tests |
| Cataract 15 multiple types | 2 tests |
| Cataract 16 multiple types | 1 test |
| Cataract 17 multiple types | 2 tests |
| Cataract 18 | 2 tests |
| Cataract 19 multiple types | 3 tests |
| Cataract 2, multiple types | 2 tests |
| Cataract 20 multiple types | 2 tests |
| Cataract 21 multiple types | 1 test |
| Cataract 22 multiple types | 2 tests |
| Cataract 23 | 2 tests |
| Cataract 3 multiple types | 1 test |
| Cataract 30 | 2 tests |
| Cataract 31 multiple types | 2 tests |
| Cataract 33 | 1 test |
| Cataract 36 | 2 tests |
| Cataract 38 | 6 tests |
| Cataract 39 multiple types | 2 tests |
| Cataract 4 multiple types | 2 tests |
| Cataract 40 | 1 test |
| Cataract 41 | 1 test |
| Cataract 44 | 1 test |
| Cataract 46 juvenile-onset | 1 test |
| Cataract 5 multiple types | 2 tests |
| Cataract 6 multiple types | 2 tests |
| Cataract 9 multiple types | 2 tests |
| Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | 7 tests |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 2 tests |
| Catecholaminergic polymorphic ventricular tachycardia 3 | 2 tests |
| Catecholaminergic polymorphic ventricular tachycardia 4 | 2 tests |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 2 tests |
| Catel-Manzke syndrome | 2 tests |
| Cayman type cerebellar ataxia | 4 tests |
| Celiac disease, susceptibility to, 3 | 1 test |
| Celiac disease, susceptibility to, 4 | 2 tests |
| Cenani-Lenz syndactyly syndrome | 1 test |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 14 tests |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 6 tests |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 6 tests |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 5 tests |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 5 tests |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 7 tests |
| Cerebellar ataxia-hypogonadism syndrome | 8 tests |
| Cerebellar atrophy with seizures and variable developmental delay | 2 tests |
| Cerebellar atrophy, developmental delay, and seizures | 4 tests |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 6 tests |
| Cerebral amyloid angiopathy, APP-related | 6 tests |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 2 tests |
| Cerebral cavernous malformation | 4 tests |
| Cerebral cavernous malformation 2 | 3 tests |
| Cerebral cavernous malformation 3 | 5 tests |
| Cerebral cavernous malformation 4 | 1 test |
| Cerebral folate transport deficiency | 5 tests |
| Cerebral palsy, spastic quadriplegic, 2 | 3 tests |
| Cerebrooculofacioskeletal syndrome 1 | 7 tests |
| Cerebrooculofacioskeletal syndrome 2 | 1 test |
| Cerebrooculofacioskeletal syndrome 3 | 1 test |
| Cerebrooculofacioskeletal syndrome 4 | 4 tests |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 10 tests |
| Cerebroretinal microangiopathy with calcifications and cysts 2 | 2 tests |
| Cernunnos-XLF deficiency | 7 tests |
| Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 9 tests |
| Ceroid lipofuscinosis, neuronal, 6A | 9 tests |
| Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | 7 tests |
| Cervical cancer | 2 tests |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 test |
| Char syndrome | 3 tests |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 8 tests |
| Charcot-Marie-Tooth disease X-linked dominant 6 | 4 tests |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 1 test |
| Charcot-Marie-Tooth disease axonal type 2C | 1 test |
| Charcot-Marie-Tooth disease axonal type 2F | 3 tests |
| Charcot-Marie-Tooth disease axonal type 2K | 1 test |
| Charcot-Marie-Tooth disease axonal type 2L | 3 tests |
| Charcot-Marie-Tooth disease axonal type 2N | 1 test |
| Charcot-Marie-Tooth disease axonal type 2O | 1 test |
| Charcot-Marie-Tooth disease axonal type 2P | 3 tests |
| Charcot-Marie-Tooth disease axonal type 2Q | 4 tests |
| Charcot-Marie-Tooth disease axonal type 2S | 4 tests |
| Charcot-Marie-Tooth disease axonal type 2U | 1 test |
| Charcot-Marie-Tooth disease axonal type 2V | 1 test |
| Charcot-Marie-Tooth disease axonal type 2X | 10 tests |
| Charcot-Marie-Tooth disease dominant intermediate B | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate C | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate E | 6 tests |
| Charcot-Marie-Tooth disease dominant intermediate F | 3 tests |
| Charcot-Marie-Tooth disease recessive intermediate A | 5 tests |
| Charcot-Marie-Tooth disease recessive intermediate B | 1 test |
| Charcot-Marie-Tooth disease recessive intermediate C | 1 test |
| Charcot-Marie-Tooth disease recessive intermediate D | 6 tests |
| Charcot-Marie-Tooth disease type 1B | 1 test |
| Charcot-Marie-Tooth disease type 1C | 4 tests |
| Charcot-Marie-Tooth disease type 1D | 5 tests |
| Charcot-Marie-Tooth disease type 1E | 2 tests |
| Charcot-Marie-Tooth disease type 2A1 | 1 test |
| Charcot-Marie-Tooth disease type 2A2 | 9 tests |
| Charcot-Marie-Tooth disease type 2B | 3 tests |
| Charcot-Marie-Tooth disease type 2B1 | 1 test |
| Charcot-Marie-Tooth disease type 2B2 | 7 tests |
| Charcot-Marie-Tooth disease type 2D | 1 test |
| Charcot-Marie-Tooth disease type 2I | 1 test |
| Charcot-Marie-Tooth disease type 2J | 1 test |
| Charcot-Marie-Tooth disease type 2R | 3 tests |
| Charcot-Marie-Tooth disease type 2Y | 1 test |
| Charcot-Marie-Tooth disease type 4A | 1 test |
| Charcot-Marie-Tooth disease type 4B1 | 3 tests |
| Charcot-Marie-Tooth disease type 4B2 | 4 tests |
| Charcot-Marie-Tooth disease type 4B3 | 4 tests |
| Charcot-Marie-Tooth disease type 4C | 3 tests |
| Charcot-Marie-Tooth disease type 4D | 3 tests |
| Charcot-Marie-Tooth disease type 4E | 1 test |
| Charcot-Marie-Tooth disease type 4F | 3 tests |
| Charcot-Marie-Tooth disease type 4G | 2 tests |
| Charcot-Marie-Tooth disease type 4H | 3 tests |
| Charcot-Marie-Tooth disease type 4J | 1 test |
| Charcot-Marie-Tooth disease type 4K | 3 tests |
| Charcot-Marie-Tooth disease, axonal, Type 2HH | 1 test |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 1 test |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 1 test |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 1 test |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1H | 1 test |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 10 tests |
| Charcot-Marie-Tooth disease, type IA | 7 tests |
| Charcot-marie-tooth disease, axonal, type 2DD | 3 tests |
| Charlevoix-Saguenay spastic ataxia | 7 tests |
| Chilblain lupus 1 | 1 test |
| Chilblain lupus 2 | 1 test |
| Child syndrome | 8 tests |
| Childhood apraxia of speech | 3 tests |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 8 tests |
| Childhood hypophosphatasia | 1 test |
| Childhood onset GLUT1 deficiency syndrome 2 | 2 tests |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 4 tests |
| Chitayat syndrome | 1 test |
| Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 1 test |
| Cholestanol storage disease | 13 tests |
| Cholestasis, intrahepatic, of pregnancy, 1 | 1 test |
| Cholestasis, intrahepatic, of pregnancy, 3 | 5 tests |
| Cholestasis, progressive familial intrahepatic, 12 | 1 test |
| Cholestasis, progressive familial intrahepatic, 4 | 5 tests |
| Cholestasis, progressive familial intrahepatic, 5 | 3 tests |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 9 tests |
| Chondrocalcinosis 2 | 2 tests |
| Chondrodysplasia Blomstrand type | 1 test |
| Chondrodysplasia punctata 2 X-linked dominant | 6 tests |
| Chondrosarcoma | 2 tests |
| Chorea-acanthocytosis | 4 tests |
| Choroid plexus papilloma | 8 tests |
| Choroidal dystrophy, central areolar 2 | 1 test |
| Choroidal dystrophy, central areolar, 1 | 5 tests |
| Choroideremia | 4 tests |
| Christianson syndrome | 9 tests |
| Chromosome 15q13.3 microdeletion syndrome | 2 tests |
| Chromosome 1p32-p31 deletion syndrome | 3 tests |
| Chromosome 2p16.3 deletion syndrome | 1 test |
| Chromosome 2q32-q33 deletion syndrome | 5 tests |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 test |
| Chronic myelogenous leukemia, BCR-ABL1 positive | 3 tests |
| Chronic myelomonocytic leukemia | 1 test |
| Chudley-McCullough syndrome | 3 tests |
| Chuvash polycythemia | 6 tests |
| Chédiak-Higashi syndrome | 13 tests |
| Ciliary dyskinesia, primary, 36, X-linked | 3 tests |
| Ciliary dyskinesia, primary, 37 | 3 tests |
| Ciliary dyskinesia, primary, 38 | 4 tests |
| Ciliary dyskinesia, primary, 39 | 3 tests |
| Ciliary dyskinesia, primary, 40 | 4 tests |
| Ciliary dyskinesia, primary, 42 | 1 test |
| Ciliary dyskinesia, primary, 43 | 2 tests |
| Ciliary dyskinesia, primary, 44 | 5 tests |
| Ciliary dyskinesia, primary, 45 | 3 tests |
| Cirrhosis, familial | 3 tests |
| Citrullinemia type I | 6 tests |
| Citrullinemia, type II, adult-onset | 10 tests |
| Clark-Baraitser syndrome | 3 tests |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 6 tests |
| Classic dopamine transporter deficiency syndrome | 5 tests |
| Classic homocystinuria | 10 tests |
| Cleft lip/palate-ectodermal dysplasia syndrome | 5 tests |
| Cleft palate with or without ankyloglossia, X-linked | 2 tests |
| Cleidocranial dysostosis | 3 tests |
| Clubfoot | 2 tests |
| Cobalamin C disease | 10 tests |
| Cobblestone lissencephaly without muscular or ocular involvement | 6 tests |
| Cockayne syndrome type 1 | 1 test |
| Cockayne syndrome type 2 | 1 test |
| Coenzyme Q10 deficiency, primary, 1 | 4 tests |
| Coenzyme Q10 deficiency, primary, 3 | 9 tests |
| Coffin-Lowry syndrome | 1 test |
| Coffin-Siris syndrome 1 | 3 tests |
| Coffin-Siris syndrome 5 | 1 test |
| Coffin-Siris syndrome 6 | 3 tests |
| Coffin-Siris syndrome 7 | 4 tests |
| Coffin-Siris syndrome 8 | 4 tests |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 5 tests |
| Cognitive impairment with or without cerebellar ataxia | 1 test |
| Cohen syndrome | 8 tests |
| Colchicine resistance | 1 test |
| Cold-induced sweating syndrome 1 | 2 tests |
| Cole-Carpenter syndrome 1 | 5 tests |
| Cole-Carpenter syndrome 2 | 3 tests |
| Coloboma of optic nerve | 1 test |
| Coloboma, ocular, autosomal dominant | 1 test |
| Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 7 tests |
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome | 3 tests |
| Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | 3 tests |
| Colorectal cancer | 23 tests |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 9 tests |
| Colorectal cancer, hereditary nonpolyposis, type 6 | 4 tests |
| Colorectal cancer, hereditary nonpolyposis, type 7 | 4 tests |
| Colorectal cancer, susceptibility to, 1 | 3 tests |
| Colorectal cancer, susceptibility to, 10 | 4 tests |
| Colorectal cancer, susceptibility to, 12 | 5 tests |
| Colton Blood group system | 2 tests |
| Combined PSAP deficiency | 1 test |
| Combined deficiency of sialidase AND beta galactosidase | 6 tests |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 1 test |
| Combined immunodeficiency due to CD3gamma deficiency | 3 tests |
| Combined immunodeficiency due to DOCK8 deficiency | 7 tests |
| Combined immunodeficiency due to GINS1 deficiency | 2 tests |
| Combined immunodeficiency due to LRBA deficiency | 6 tests |
| Combined immunodeficiency due to MALT1 deficiency | 3 tests |
| Combined immunodeficiency due to STIM1 deficiency | 7 tests |
| Combined immunodeficiency due to STK4 deficiency | 2 tests |
| Combined immunodeficiency due to ZAP70 deficiency | 3 tests |
| Combined immunodeficiency due to moesin deficiency | 1 test |
| Combined immunodeficiency due to partial RAG1 deficiency | 1 test |
| Combined immunodeficiency with faciooculoskeletal anomalies | 1 test |
| Combined immunodeficiency with skin granulomas | 5 tests |
| Combined immunodeficiency, X-linked | 6 tests |
| Combined malonic and methylmalonic acidemia | 6 tests |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 1 test |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 1 test |
| Combined oxidative phosphorylation defect type 11 | 8 tests |
| Combined oxidative phosphorylation defect type 13 | 9 tests |
| Combined oxidative phosphorylation defect type 14 | 1 test |
| Combined oxidative phosphorylation defect type 15 | 1 test |
| Combined oxidative phosphorylation defect type 17 | 7 tests |
| Combined oxidative phosphorylation defect type 2 | 5 tests |
| Combined oxidative phosphorylation defect type 20 | 6 tests |
| Combined oxidative phosphorylation defect type 21 | 4 tests |
| Combined oxidative phosphorylation defect type 23 | 7 tests |
| Combined oxidative phosphorylation defect type 24 | 9 tests |
| Combined oxidative phosphorylation defect type 25 | 7 tests |
| Combined oxidative phosphorylation defect type 26 | 2 tests |
| Combined oxidative phosphorylation defect type 27 | 5 tests |
| Combined oxidative phosphorylation defect type 30 | 5 tests |
| Combined oxidative phosphorylation defect type 4 | 7 tests |
| Combined oxidative phosphorylation defect type 7 | 6 tests |
| Combined oxidative phosphorylation defect type 8 | 1 test |
| Combined oxidative phosphorylation defect type 9 | 6 tests |
| Combined oxidative phosphorylation deficiency 22 | 3 tests |
| Combined oxidative phosphorylation deficiency 28 | 6 tests |
| Combined oxidative phosphorylation deficiency 32 | 2 tests |
| Combined oxidative phosphorylation deficiency 33 | 2 tests |
| Combined oxidative phosphorylation deficiency 35 | 5 tests |
| Combined oxidative phosphorylation deficiency 36 | 2 tests |
| Combined oxidative phosphorylation deficiency 39 | 7 tests |
| Combined oxidative phosphorylation deficiency 44 | 8 tests |
| Combined pituitary hormone deficiencies, genetic form | 1 test |
| Complement component 2 deficiency | 1 test |
| Complement component 3 deficiency | 1 test |
| Complement component 5 deficiency | 1 test |
| Complement component 6 deficiency | 2 tests |
| Complement component 7 deficiency | 2 tests |
| Complement component 9 deficiency | 2 tests |
| Complement component C1s deficiency | 1 test |
| Complement factor b deficiency | 1 test |
| Complex cortical dysplasia with other brain malformations 2 | 4 tests |
| Complex cortical dysplasia with other brain malformations 3 | 3 tests |
| Complex cortical dysplasia with other brain malformations 4 | 3 tests |
| Complex cortical dysplasia with other brain malformations 5 | 4 tests |
| Complex cortical dysplasia with other brain malformations 6 | 2 tests |
| Complex cortical dysplasia with other brain malformations 7 | 4 tests |
| Complex lethal osteochondrodysplasia | 1 test |
| Compton-North congenital myopathy | 2 tests |
| Cone dystrophy 3 | 2 tests |
| Cone dystrophy 4 | 2 tests |
| Cone dystrophy with supernormal rod response | 2 tests |
| Cone monochromatism | 1 test |
| Cone-rod dystrophy 10 | 2 tests |
| Cone-rod dystrophy 11 | 1 test |
| Cone-rod dystrophy 12 | 1 test |
| Cone-rod dystrophy 13 | 1 test |
| Cone-rod dystrophy 15 | 2 tests |
| Cone-rod dystrophy 16 | 1 test |
| Cone-rod dystrophy 18 | 2 tests |
| Cone-rod dystrophy 19 | 2 tests |
| Cone-rod dystrophy 2 | 5 tests |
| Cone-rod dystrophy 20 | 2 tests |
| Cone-rod dystrophy 21 | 2 tests |
| Cone-rod dystrophy 3 | 1 test |
| Cone-rod dystrophy 5 | 3 tests |
| Cone-rod dystrophy 6 | 1 test |
| Cone-rod dystrophy 7 | 4 tests |
| Cone-rod dystrophy 9 | 2 tests |
| Cone-rod dystrophy and hearing loss 1 | 1 test |
| Cone-rod synaptic disorder, congenital nonprogressive | 5 tests |
| Congenital absence of salivary gland | 1 test |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 1 test |
| Congenital adrenal hypoplasia, X-linked | 1 test |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 5 tests |
| Congenital afibrinogenemia | 6 tests |
| Congenital amegakaryocytic thrombocytopenia | 1 test |
| Congenital anomalies of kidney and urinary tract 1 | 7 tests |
| Congenital anomalies of kidney and urinary tract 2 | 3 tests |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 4 tests |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 2 tests |
| Congenital bile acid synthesis defect 1 | 5 tests |
| Congenital bile acid synthesis defect 2 | 4 tests |
| Congenital bile acid synthesis defect 3 | 9 tests |
| Congenital bile acid synthesis defect 5 | 5 tests |
| Congenital brain dysgenesis due to glutamine synthetase deficiency | 4 tests |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 3 tests |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 6 tests |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 3 tests |
| Congenital contractural arachnodactyly | 1 test |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 test |
| Congenital diarrhea 5 with tufting enteropathy | 7 tests |
| Congenital diarrhea 6 | 2 tests |
| Congenital disorder of deglycosylation 1 | 7 tests |
| Congenital disorder of glycosylation type 1E | 6 tests |
| Congenital disorder of glycosylation type Ir | 4 tests |
| Congenital disorder of glycosylation with defective fucosylation 1 | 3 tests |
| Congenital disorder of glycosylation, type IAA | 2 tests |
| Congenital disorder of glycosylation, type ICC | 1 test |
| Congenital disorder of glycosylation, type IIr | 4 tests |
| Congenital disorder of glycosylation, type IIw | 1 test |
| Congenital disorder of glycosylation, type Iw, autosomal dominant | 1 test |
| Congenital dyserythropoietic anemia type 4 | 1 test |
| Congenital dyserythropoietic anemia type type 1B | 1 test |
| Congenital dyserythropoietic anemia, type II | 1 test |
| Congenital factor VII deficiency | 3 tests |
| Congenital fibrosis of extraocular muscles type 1 | 2 tests |
| Congenital generalized lipodystrophy type 1 | 3 tests |
| Congenital generalized lipodystrophy type 2 | 1 test |
| Congenital generalized lipodystrophy type 3 | 7 tests |
| Congenital generalized lipodystrophy type 4 | 5 tests |
| Congenital glucose-galactose malabsorption | 2 tests |
| Congenital heart defects and skeletal malformations syndrome | 1 test |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 test |
| Congenital heart defects, multiple types, 2 | 2 tests |
| Congenital heart defects, multiple types, 4 | 3 tests |
| Congenital heart defects, multiple types, 5 | 2 tests |
| Congenital heart defects, multiple types, 6 | 2 tests |
| Congenital heart defects, multiple types, 8, with or without heterotaxy | 2 tests |
| Congenital hereditary endothelial dystrophy of cornea | 1 test |
| Congenital hyperammonemia, type I | 1 test |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 5 tests |
| Congenital hypotrichosis with juvenile macular dystrophy | 1 test |
| Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 1 test |
| Congenital isolated adrenocorticotropic hormone deficiency | 2 tests |
| Congenital lactase deficiency | 4 tests |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 9 tests |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 7 tests |
| Congenital macrodactylia | 1 test |
| Congenital malabsorptive diarrhea 4 | 6 tests |
| Congenital mesoblastic nephroma | 1 test |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 4 tests |
| Congenital microvillous atrophy | 2 tests |
| Congenital multicore myopathy with external ophthalmoplegia | 5 tests |
| Congenital muscular dystrophy due to LMNA mutation | 1 test |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 5 tests |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | 7 tests |
| Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | 4 tests |
| Congenital muscular hypertrophy-cerebral syndrome | 6 tests |
| Congenital myasthenic syndrome 10 | 6 tests |
| Congenital myasthenic syndrome 11 | 7 tests |
| Congenital myasthenic syndrome 12 | 8 tests |
| Congenital myasthenic syndrome 13 | 1 test |
| Congenital myasthenic syndrome 14 | 6 tests |
| Congenital myasthenic syndrome 15 | 1 test |
| Congenital myasthenic syndrome 16 | 1 test |
| Congenital myasthenic syndrome 17 | 1 test |
| Congenital myasthenic syndrome 18 | 3 tests |
| Congenital myasthenic syndrome 19 | 3 tests |
| Congenital myasthenic syndrome 1A | 1 test |
| Congenital myasthenic syndrome 20 | 4 tests |
| Congenital myasthenic syndrome 21 | 4 tests |
| Congenital myasthenic syndrome 2A | 1 test |
| Congenital myasthenic syndrome 2C | 6 tests |
| Congenital myasthenic syndrome 3B | 1 test |
| Congenital myasthenic syndrome 3C | 5 tests |
| Congenital myasthenic syndrome 4A | 1 test |
| Congenital myasthenic syndrome 4B | 7 tests |
| Congenital myasthenic syndrome 4C | 1 test |
| Congenital myasthenic syndrome 5 | 6 tests |
| Congenital myasthenic syndrome 7 | 4 tests |
| Congenital myasthenic syndrome 8 | 4 tests |
| Congenital myasthenic syndrome 9 | 1 test |
| Congenital myopathy 23 | 5 tests |
| Congenital myopathy 4B, autosomal recessive | 4 tests |
| Congenital myopathy with fiber type disproportion | 6 tests |
| Congenital myopathy with internal nuclei and atypical cores | 4 tests |
| Congenital myopathy with reduced type 2 muscle fibers | 3 tests |
| Congenital myotonia, autosomal dominant form | 1 test |
| Congenital myotonia, autosomal recessive form | 4 tests |
| Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 3 tests |
| Congenital nongoitrous hypothyroidism 6 | 5 tests |
| Congenital nonprogressive myopathy with Moebius and Robin sequences | 3 tests |
| Congenital plasminogen activator inhibitor type 1 deficiency | 2 tests |
| Congenital prothrombin deficiency | 1 test |
| Congenital reticular ichthyosiform erythroderma | 1 test |
| Congenital secretory diarrhea, chloride type | 4 tests |
| Congenital secretory sodium diarrhea 3 | 4 tests |
| Congenital sensory neuropathy with selective loss of small myelinated fibers | 3 tests |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 8 tests |
| Congenital stationary night blindness 1C | 3 tests |
| Congenital stationary night blindness 2A | 1 test |
| Congenital stationary night blindness autosomal dominant 1 | 7 tests |
| Congenital stationary night blindness autosomal dominant 2 | 2 tests |
| Congenital vertical talus | 3 tests |
| Conotruncal heart malformations | 9 tests |
| Constitutional megaloblastic anemia with severe neurologic disease | 2 tests |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 1 test |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 1 test |
| Corneal dystrophy, Fuchs endothelial, 3 | 2 tests |
| Corneal dystrophy, Fuchs endothelial, 4 | 1 test |
| Corneal dystrophy-perceptive deafness syndrome | 2 tests |
| Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 1 test |
| Cornelia de Lange syndrome 1 | 8 tests |
| Cornelia de Lange syndrome 3 | 6 tests |
| Cornelia de Lange syndrome 4 | 4 tests |
| Cornelia de Lange syndrome 5 | 4 tests |
| Coronary heart disease, susceptibility to, 1 | 1 test |
| Coronary heart disease, susceptibility to, 6 | 1 test |
| Coronary heart disease, susceptibility to, 7 | 1 test |
| Corpus callosum agenesis-abnormal genitalia syndrome | 7 tests |
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | 3 tests |
| Cortical dysplasia, complex, with other brain malformations 9 | 4 tests |
| Cortical dysplasia-focal epilepsy syndrome | 1 test |
| Corticosterone 18-monooxygenase deficiency | 6 tests |
| Corticosterone methyloxidase type 2 deficiency | 1 test |
| Cortisone reductase deficiency 1 | 2 tests |
| Cortisone reductase deficiency 2 | 4 tests |
| Costello syndrome | 13 tests |
| Cowden syndrome 1 | 7 tests |
| Cowden syndrome 5 | 3 tests |
| Cowden syndrome 6 | 3 tests |
| Cowden syndrome 7 | 4 tests |
| Craniodiaphyseal dysplasia, autosomal dominant | 1 test |
| Cranioectodermal dysplasia 1 | 3 tests |
| Cranioectodermal dysplasia 2 | 1 test |
| Cranioectodermal dysplasia 3 | 1 test |
| Cranioectodermal dysplasia 4 | 1 test |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 5 tests |
| Craniofacial dysplasia - osteopenia syndrome | 2 tests |
| Craniofacial-deafness-hand syndrome | 1 test |
| Craniofrontonasal syndrome | 3 tests |
| Craniometaphyseal dysplasia, autosomal dominant | 6 tests |
| Craniosynostosis 2 | 2 tests |
| Craniosynostosis 4 | 1 test |
| Craniosynostosis 5, susceptibility to | 1 test |
| Craniosynostosis 6 | 4 tests |
| Craniosynostosis and dental anomalies | 2 tests |
| Creatine transporter deficiency | 7 tests |
| Crigler-Najjar syndrome type 1 | 1 test |
| Crigler-Najjar syndrome, type II | 1 test |
| Crouzon syndrome | 1 test |
| Crouzon syndrome-acanthosis nigricans syndrome | 1 test |
| Cryohydrocytosis | 1 test |
| Cryptorchidism | 1 test |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 2 tests |
| Curly hair, ankyloblepharon, nail dysplasia syndrome | 3 tests |
| Currarino triad | 1 test |
| Curry-Hall syndrome | 7 tests |
| Curry-Jones syndrome | 1 test |
| Cutaneous mastocytosis | 9 tests |
| Cutaneous porphyria | 5 tests |
| Cutis laxa with osteodystrophy | 1 test |
| Cutis laxa, X-linked | 1 test |
| Cutis laxa, autosomal dominant 1 | 1 test |
| Cutis laxa, autosomal dominant 2 | 7 tests |
| Cutis laxa, autosomal dominant 3 | 1 test |
| Cutis laxa, autosomal recessive, type 1A | 1 test |
| Cutis laxa, autosomal recessive, type 1B | 7 tests |
| Cyclical neutropenia | 1 test |
| Cystathioninuria | 2 tests |
| Cystic fibrosis | 11 tests |
| Cystic leukoencephalopathy without megalencephaly | 5 tests |
| Cystinuria | 7 tests |
| Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | 2 tests |
| D,L-2-hydroxyglutaric aciduria | 5 tests |
| D-2-hydroxyglutaric aciduria 1 | 6 tests |
| D-2-hydroxyglutaric aciduria 2 | 2 tests |
| D-Glyceric aciduria | 4 tests |
| DDX41-related hematologic malignancy predisposition syndrome | 1 test |
| DE SANCTIS-CACCHIONE SYNDROME | 1 test |
| DEGCAGS syndrome | 3 tests |
| DK1-congenital disorder of glycosylation | 7 tests |
| DNA ligase IV deficiency | 4 tests |
| DOCK2 deficiency | 2 tests |
| DOORS syndrome | 1 test |
| DPAGT1-congenital disorder of glycosylation | 6 tests |
| DPM3-congenital disorder of glycosylation | 1 test |
| DYRK1A-related intellectual disability syndrome | 5 tests |
| Danon disease | 13 tests |
| DeSanto-Shinawi syndrome due to WAC point mutation | 3 tests |
| Deafness dystonia syndrome | 8 tests |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 test |
| Deafness, X-linked 5 | 1 test |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 test |
| Deafness, congenital heart defects, and posterior embryotoxon | 1 test |
| Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 6 tests |
| Deafness-lymphedema-leukemia syndrome | 4 tests |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 6 tests |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 3 tests |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 9 tests |
| Deficiency of acetyl-CoA acetyltransferase | 8 tests |
| Deficiency of alpha-mannosidase | 7 tests |
| Deficiency of aromatic-L-amino-acid decarboxylase | 6 tests |
| Deficiency of beta-ureidopropionase | 4 tests |
| Deficiency of butyryl-CoA dehydrogenase | 7 tests |
| Deficiency of butyrylcholinesterase | 1 test |
| Deficiency of cytochrome-b5 reductase | 4 tests |
| Deficiency of ferroxidase | 8 tests |
| Deficiency of galactokinase | 6 tests |
| Deficiency of guanidinoacetate methyltransferase | 9 tests |
| Deficiency of hyaluronoglucosaminidase | 4 tests |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 10 tests |
| Deficiency of iodide peroxidase | 4 tests |
| Deficiency of isobutyryl-CoA dehydrogenase | 5 tests |
| Deficiency of malonyl-CoA decarboxylase | 4 tests |
| Deficiency of phosphoserine phosphatase | 3 tests |
| Deficiency of ribose-5-phosphate isomerase | 5 tests |
| Deficiency of steroid 11-beta-monooxygenase | 9 tests |
| Deficiency of steroid 17-alpha-monooxygenase | 7 tests |
| Deficiency of transaldolase | 1 test |
| Dehydrated hereditary stomatocytosis 2 | 2 tests |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 2 tests |
| Dejerine-Sottas disease | 5 tests |
| Delta-beta-thalassemia | 2 tests |
| Dent disease type 1 | 1 test |
| Dent disease type 2 | 11 tests |
| Dentatorubral-pallidoluysian atrophy | 2 tests |
| Denticles | 1 test |
| Dentinogenesis imperfecta type 2 | 3 tests |
| Dentinogenesis imperfecta type 3 | 1 test |
| Dermatofibrosis lenticularis disseminata | 2 tests |
| Desbuquois dysplasia 1 | 1 test |
| Desmin-related myofibrillar myopathy | 1 test |
| Desmoid disease, hereditary | 6 tests |
| Desmosterolosis | 7 tests |
| Developmental and epileptic encephalopathy 101 | 4 tests |
| Developmental and epileptic encephalopathy 6B | 2 tests |
| Developmental and epileptic encephalopathy 89 | 6 tests |
| Developmental and epileptic encephalopathy 91 | 1 test |
| Developmental and epileptic encephalopathy 92 | 4 tests |
| Developmental and epileptic encephalopathy 93 | 1 test |
| Developmental and epileptic encephalopathy 94 | 5 tests |
| Developmental and epileptic encephalopathy 98 | 1 test |
| Developmental and epileptic encephalopathy 99 | 1 test |
| Developmental and epileptic encephalopathy, 1 | 1 test |
| Developmental and epileptic encephalopathy, 11 | 1 test |
| Developmental and epileptic encephalopathy, 12 | 4 tests |
| Developmental and epileptic encephalopathy, 13 | 1 test |
| Developmental and epileptic encephalopathy, 14 | 1 test |
| Developmental and epileptic encephalopathy, 15 | 1 test |
| Developmental and epileptic encephalopathy, 16 | 1 test |
| Developmental and epileptic encephalopathy, 17 | 1 test |
| Developmental and epileptic encephalopathy, 18 | 3 tests |
| Developmental and epileptic encephalopathy, 19 | 1 test |
| Developmental and epileptic encephalopathy, 2 | 5 tests |
| Developmental and epileptic encephalopathy, 21 | 2 tests |
| Developmental and epileptic encephalopathy, 23 | 4 tests |
| Developmental and epileptic encephalopathy, 24 | 4 tests |
| Developmental and epileptic encephalopathy, 25 | 3 tests |
| Developmental and epileptic encephalopathy, 26 | 4 tests |
| Developmental and epileptic encephalopathy, 27 | 4 tests |
| Developmental and epileptic encephalopathy, 28 | 2 tests |
| Developmental and epileptic encephalopathy, 29 | 1 test |
| Developmental and epileptic encephalopathy, 3 | 5 tests |
| Developmental and epileptic encephalopathy, 30 | 3 tests |
| Developmental and epileptic encephalopathy, 31A | 3 tests |
| Developmental and epileptic encephalopathy, 32 | 5 tests |
| Developmental and epileptic encephalopathy, 33 | 5 tests |
| Developmental and epileptic encephalopathy, 34 | 4 tests |
| Developmental and epileptic encephalopathy, 35 | 1 test |
| Developmental and epileptic encephalopathy, 36 | 6 tests |
| Developmental and epileptic encephalopathy, 37 | 2 tests |
| Developmental and epileptic encephalopathy, 38 | 3 tests |
| Developmental and epileptic encephalopathy, 39 | 7 tests |
| Developmental and epileptic encephalopathy, 4 | 6 tests |
| Developmental and epileptic encephalopathy, 40 | 3 tests |
| Developmental and epileptic encephalopathy, 41 | 3 tests |
| Developmental and epileptic encephalopathy, 42 | 8 tests |
| Developmental and epileptic encephalopathy, 43 | 4 tests |
| Developmental and epileptic encephalopathy, 44 | 3 tests |
| Developmental and epileptic encephalopathy, 45 | 3 tests |
| Developmental and epileptic encephalopathy, 46 | 2 tests |
| Developmental and epileptic encephalopathy, 47 | 3 tests |
| Developmental and epileptic encephalopathy, 48 | 2 tests |
| Developmental and epileptic encephalopathy, 49 | 3 tests |
| Developmental and epileptic encephalopathy, 5 | 4 tests |
| Developmental and epileptic encephalopathy, 50 | 1 test |
| Developmental and epileptic encephalopathy, 51 | 3 tests |
| Developmental and epileptic encephalopathy, 52 | 3 tests |
| Developmental and epileptic encephalopathy, 53 | 1 test |
| Developmental and epileptic encephalopathy, 54 | 4 tests |
| Developmental and epileptic encephalopathy, 55 | 3 tests |
| Developmental and epileptic encephalopathy, 56 | 3 tests |
| Developmental and epileptic encephalopathy, 57 | 3 tests |
| Developmental and epileptic encephalopathy, 58 | 1 test |
| Developmental and epileptic encephalopathy, 59 | 3 tests |
| Developmental and epileptic encephalopathy, 60 | 3 tests |
| Developmental and epileptic encephalopathy, 61 | 3 tests |
| Developmental and epileptic encephalopathy, 62 | 3 tests |
| Developmental and epileptic encephalopathy, 63 | 3 tests |
| Developmental and epileptic encephalopathy, 64 | 3 tests |
| Developmental and epileptic encephalopathy, 65 | 3 tests |
| Developmental and epileptic encephalopathy, 66 | 2 tests |
| Developmental and epileptic encephalopathy, 67 | 3 tests |
| Developmental and epileptic encephalopathy, 68 | 3 tests |
| Developmental and epileptic encephalopathy, 69 | 4 tests |
| Developmental and epileptic encephalopathy, 7 | 1 test |
| Developmental and epileptic encephalopathy, 70 | 3 tests |
| Developmental and epileptic encephalopathy, 72 | 2 tests |
| Developmental and epileptic encephalopathy, 73 | 3 tests |
| Developmental and epileptic encephalopathy, 74 | 1 test |
| Developmental and epileptic encephalopathy, 75 | 6 tests |
| Developmental and epileptic encephalopathy, 76 | 1 test |
| Developmental and epileptic encephalopathy, 77 | 3 tests |
| Developmental and epileptic encephalopathy, 78 | 3 tests |
| Developmental and epileptic encephalopathy, 79 | 3 tests |
| Developmental and epileptic encephalopathy, 8 | 5 tests |
| Developmental and epileptic encephalopathy, 80 | 3 tests |
| Developmental and epileptic encephalopathy, 81 | 1 test |
| Developmental and epileptic encephalopathy, 82 | 3 tests |
| Developmental and epileptic encephalopathy, 83 | 3 tests |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 test |
| Developmental and epileptic encephalopathy, 9 | 5 tests |
| Developmental delay and seizures with or without movement abnormalities | 1 test |
| Developmental delay with autism spectrum disorder and gait instability | 3 tests |
| Developmental delay with or without dysmorphic facies and autism | 1 test |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 3 tests |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 3 tests |
| Developmental delay, hypotonia, and impaired language | 1 test |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 test |
| Developmental malformations-deafness-dystonia syndrome | 1 test |
| DiGeorge syndrome | 1 test |
| Diabetes insipidus, nephrogenic, X-linked | 5 tests |
| Diabetes insipidus, nephrogenic, autosomal | 3 tests |
| Diabetes mellitus type 1 | 1 test |
| Diabetes mellitus, ketosis-prone | 1 test |
| Diabetes mellitus, permanent neonatal 2 | 2 tests |
| Diabetes mellitus, permanent neonatal 3 | 9 tests |
| Diabetes mellitus, permanent neonatal 4 | 4 tests |
| Diabetes mellitus, transient neonatal, 1 | 4 tests |
| Diabetes mellitus, transient neonatal, 2 | 2 tests |
| Diabetes mellitus, transient neonatal, 3 | 2 tests |
| Diamond-Blackfan anemia 1 | 3 tests |
| Diamond-Blackfan anemia 10 | 2 tests |
| Diamond-Blackfan anemia 12 | 1 test |
| Diamond-Blackfan anemia 13 | 1 test |
| Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | 2 tests |
| Diamond-Blackfan anemia 3 | 2 tests |
| Diamond-Blackfan anemia 5 | 4 tests |
| Diamond-Blackfan anemia 6 | 2 tests |
| Diamond-Blackfan anemia 7 | 2 tests |
| Diamond-Blackfan anemia 8 | 2 tests |
| Diamond-Blackfan anemia 9 | 2 tests |
| Diaphragmatic hernia 3 | 1 test |
| Diaphyseal dysplasia | 1 test |
| Diaphyseal medullary stenosis-bone malignancy syndrome | 2 tests |
| Dias-Logan syndrome | 5 tests |
| Diastrophic dysplasia | 1 test |
| Dicarboxylic aminoaciduria | 3 tests |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 3 tests |
| Differentiated thyroid carcinoma | 1 test |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 8 tests |
| Diffuse nonepidermolytic palmoplantar keratoderma | 2 tests |
| Dihydropteridine reductase deficiency | 6 tests |
| Dihydropyrimidinase deficiency | 3 tests |
| Dihydropyrimidine dehydrogenase deficiency | 8 tests |
| Dilated cardiomyopathy 1A | 1 test |
| Dilated cardiomyopathy 1AA | 1 test |
| Dilated cardiomyopathy 1BB | 2 tests |
| Dilated cardiomyopathy 1C | 6 tests |
| Dilated cardiomyopathy 1CC | 3 tests |
| Dilated cardiomyopathy 1D | 1 test |
| Dilated cardiomyopathy 1DD | 2 tests |
| Dilated cardiomyopathy 1E | 1 test |
| Dilated cardiomyopathy 1EE | 1 test |
| Dilated cardiomyopathy 1FF | 1 test |
| Dilated cardiomyopathy 1G | 1 test |
| Dilated cardiomyopathy 1GG | 1 test |
| Dilated cardiomyopathy 1HH | 1 test |
| Dilated cardiomyopathy 1I | 1 test |
| Dilated cardiomyopathy 1II | 1 test |
| Dilated cardiomyopathy 1J | 4 tests |
| Dilated cardiomyopathy 1JJ | 2 tests |
| Dilated cardiomyopathy 1KK | 1 test |
| Dilated cardiomyopathy 1L | 4 tests |
| Dilated cardiomyopathy 1M | 1 test |
| Dilated cardiomyopathy 1NN | 5 tests |
| Dilated cardiomyopathy 1O | 1 test |
| Dilated cardiomyopathy 1P | 1 test |
| Dilated cardiomyopathy 1R | 2 tests |
| Dilated cardiomyopathy 1S | 1 test |
| Dilated cardiomyopathy 1U | 1 test |
| Dilated cardiomyopathy 1V | 5 tests |
| Dilated cardiomyopathy 1W | 1 test |
| Dilated cardiomyopathy 1X | 1 test |
| Dilated cardiomyopathy 1Y | 1 test |
| Dilated cardiomyopathy 1Z | 1 test |
| Dilated cardiomyopathy 2A | 2 tests |
| Dilated cardiomyopathy 3B | 2 tests |
| Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 1 test |
| Dimethylglycine dehydrogenase deficiency | 3 tests |
| Distal arthrogryposis type 2B1 | 4 tests |
| Distal arthrogryposis type 5D | 3 tests |
| Distal myopathy with anterior tibial onset | 1 test |
| Distal myopathy, Tateyama type | 4 tests |
| Dizygotic twins | 1 test |
| Dominant beta-thalassemia | 2 tests |
| Dominant dystrophic epidermolysis bullosa with absence of skin | 1 test |
| Donnai-Barrow syndrome | 6 tests |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 7 tests |
| Dowling-Degos disease 1 | 1 test |
| Dowling-Degos disease 4 | 1 test |
| Down syndrome | 5 tests |
| Doyne honeycomb retinal dystrophy | 2 tests |
| Drash syndrome | 3 tests |
| Duane retraction syndrome 2 | 1 test |
| Duane-radial ray syndrome | 6 tests |
| Dubin-Johnson syndrome | 5 tests |
| Duchenne muscular dystrophy | 2 tests |
| Dyggve-Melchior-Clausen syndrome | 2 tests |
| Dyschromatosis universalis hereditaria 1 | 1 test |
| Dyschromatosis universalis hereditaria 3 | 1 test |
| Dyskeratosis congenita, X-linked | 11 tests |
| Dyskeratosis congenita, autosomal dominant 2 | 4 tests |
| Dyskeratosis congenita, autosomal dominant 3 | 9 tests |
| Dyskeratosis congenita, autosomal dominant 6 | 4 tests |
| Dyskeratosis congenita, autosomal recessive 1 | 5 tests |
| Dyskeratosis congenita, autosomal recessive 2 | 4 tests |
| Dyskeratosis congenita, autosomal recessive 3 | 4 tests |
| Dyskeratosis congenita, autosomal recessive 5 | 6 tests |
| Dyskeratosis congenita, autosomal recessive 6 | 5 tests |
| Dyskinesia with orofacial involvement, autosomal dominant | 2 tests |
| Dyskinesia with orofacial involvement, autosomal recessive | 2 tests |
| Dyslexia, susceptibility to, 1 | 1 test |
| Dystonia 12 | 1 test |
| Dystonia 16 | 3 tests |
| Dystonia 24 | 2 tests |
| Dystonia 25 | 1 test |
| Dystonia 27 | 1 test |
| Dystonia 28, childhood-onset | 1 test |
| Dystonia 32 | 4 tests |
| Dystonia 5 | 1 test |
| Dystonia 9 | 11 tests |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 9 tests |
| EAST syndrome | 11 tests |
| Early-onset Parkinson disease 20 | 5 tests |
| Early-onset autosomal dominant Alzheimer disease | 2 tests |
| Early-onset generalized limb-onset dystonia | 1 test |
| Early-onset myopathy with fatal cardiomyopathy | 4 tests |
| Early-onset parkinsonism-intellectual disability syndrome | 4 tests |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 2 tests |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 6 tests |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 1 test |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 1 test |
| Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 1 test |
| Ectodermal dysplasia 4, hair/nail type | 2 tests |
| Ectodermal dysplasia 7, hair/nail type | 1 test |
| Ectodermal dysplasia and immunodeficiency 1 | 1 test |
| Ectodermal dysplasia and immunodeficiency 2 | 2 tests |
| Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | 1 test |
| Ectopia lentis 1, isolated, autosomal dominant | 10 tests |
| Ectopia lentis 2, isolated, autosomal recessive | 1 test |
| Ectopia lentis et pupillae | 3 tests |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 1 test |
| Eculizumab, poor response to | 2 tests |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 2 tests |
| Ehlers-Danlos syndrome, cardiac valvular type | 1 test |
| Ehlers-Danlos syndrome, classic type, 1 | 4 tests |
| Ehlers-Danlos syndrome, classic type, 2 | 5 tests |
| Ehlers-Danlos syndrome, classic-like, 2 | 3 tests |
| Ehlers-Danlos syndrome, dermatosparaxis type | 4 tests |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 4 tests |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 6 tests |
| Ehlers-Danlos syndrome, musculocontractural type 1 | 5 tests |
| Ehlers-Danlos syndrome, musculocontractural type 2 | 2 tests |
| Ehlers-Danlos syndrome, periodontal type 1 | 5 tests |
| Ehlers-Danlos syndrome, periodontal type 2 | 4 tests |
| Ehlers-Danlos syndrome, spondylocheirodysplastic type | 3 tests |
| Ehlers-Danlos syndrome, spondylodysplastic type, 1 | 3 tests |
| Ehlers-Danlos syndrome, type 4 | 2 tests |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 1 test |
| Eiken syndrome | 1 test |
| Elevated circulating creatine kinase concentration | 1 test |
| Elliptocytosis 1 | 2 tests |
| Elliptocytosis 2 | 1 test |
| Elliptocytosis 3 | 4 tests |
| Ellis-van Creveld syndrome | 7 tests |
| Elsahy-Waters syndrome | 3 tests |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 test |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 1 test |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 test |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 4 tests |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 4 tests |
| Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | 1 test |
| Encephalocraniocutaneous lipomatosis | 2 tests |
| Encephalopathy due to GLUT1 deficiency | 2 tests |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 6 tests |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | 1 test |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | 5 tests |
| Encephalopathy, acute, infection-induced, susceptibility to, 4 | 1 test |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 8 tests |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 3 tests |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 5 tests |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 1 test |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 10 tests |
| Enchondromatosis | 2 tests |
| Endometrial carcinoma | 10 tests |
| Epidermal nevus | 12 tests |
| Epidermodysplasia verruciformis, susceptibility to, 1 | 2 tests |
| Epidermodysplasia verruciformis, susceptibility to, 2 | 1 test |
| Epidermolysis bullosa pruriginosa | 1 test |
| Epidermolysis bullosa simplex 1A, generalized severe | 1 test |
| Epidermolysis bullosa simplex 1C, localized | 1 test |
| Epidermolysis bullosa simplex 2A, generalized severe | 1 test |
| Epidermolysis bullosa simplex 2B, generalized intermediate | 1 test |
| Epidermolysis bullosa simplex 2C, localized | 1 test |
| Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive | 5 tests |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 5 tests |
| Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive | 2 tests |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 1 test |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 1 test |
| Epidermolysis bullosa simplex 7, with nephropathy and deafness | 1 test |
| Epidermolysis bullosa simplex due to plakophilin deficiency | 2 tests |
| Epidermolysis bullosa simplex with migratory circinate erythema | 1 test |
| Epidermolysis bullosa simplex with mottled pigmentation | 1 test |
| Epidermolysis bullosa simplex with nail dystrophy | 1 test |
| Epidermolysis bullosa simplex, Koebner type | 1 test |
| Epidermolysis bullosa simplex, Ogna type | 1 test |
| Epidermolysis bullosa, junctional 2A, intermediate | 6 tests |
| Epidermolysis bullosa, junctional 2B, severe | 1 test |
| Epidermolysis bullosa, junctional 3A, intermediate | 6 tests |
| Epidermolysis bullosa, junctional 3B, severe | 1 test |
| Epidermolysis bullosa, junctional 4, intermediate | 3 tests |
| Epidermolysis bullosa, junctional 5A, intermediate | 1 test |
| Epidermolysis bullosa, junctional 6, with pyloric atresia | 3 tests |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 6 tests |
| Epidermolytic ichthyosis | 2 tests |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 4 tests |
| Epilepsy, childhood absence, susceptibility to, 5 | 1 test |
| Epilepsy, childhood absence, susceptibility to, 6 | 3 tests |
| Epilepsy, early-onset, vitamin B6-dependent | 3 tests |
| Epilepsy, early-onset, with or without developmental delay | 3 tests |
| Epilepsy, familial focal, with variable foci 1 | 4 tests |
| Epilepsy, familial focal, with variable foci 2 | 3 tests |
| Epilepsy, familial focal, with variable foci 3 | 3 tests |
| Epilepsy, familial focal, with variable foci 4 | 1 test |
| Epilepsy, familial temporal lobe, 1 | 3 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 3 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 16 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 18 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 1 test |
| Epilepsy, juvenile myoclonic, susceptibility to, 10 | 5 tests |
| Epilepsy, progressive myoclonic, 11 | 2 tests |
| Epilepsy, progressive myoclonic, 1B | 7 tests |
| Epiphyseal dysplasia, multiple, 2 | 5 tests |
| Epiphyseal dysplasia, multiple, 3 | 6 tests |
| Epiphyseal dysplasia, multiple, 6 | 1 test |
| Epiphyseal dysplasia, multiple, 7 | 7 tests |
| Episodic ataxia type 1 | 7 tests |
| Episodic ataxia type 2 | 2 tests |
| Episodic ataxia type 5 | 5 tests |
| Episodic ataxia type 6 | 4 tests |
| Episodic ataxia, type 9 | 7 tests |
| Episodic kinesigenic dyskinesia 1 | 1 test |
| Episodic pain syndrome, familial, 2 | 3 tests |
| Epithelial recurrent erosion dystrophy | 1 test |
| Epsilon-trimethyllysine hydroxylase deficiency | 3 tests |
| Erythrocytosis, familial, 4 | 1 test |
| Erythrocytosis, familial, 6 | 2 tests |
| Erythrocytosis, familial, 7 | 4 tests |
| Erythrokeratodermia variabilis et progressiva 1 | 1 test |
| Erythrokeratodermia variabilis et progressiva 2 | 3 tests |
| Erythrokeratodermia variabilis et progressiva 3 | 9 tests |
| Erythrokeratodermia variabilis et progressiva 4 | 4 tests |
| Erythrokeratodermia variabilis et progressiva 6 | 1 test |
| Erythroleukemia, familial, susceptibility to | 1 test |
| Essential fructosuria | 3 tests |
| Essential hypertension, genetic | 3 tests |
| Estrogen resistance syndrome | 1 test |
| Ethylmalonic encephalopathy | 10 tests |
| Euthyroid goiter | 4 tests |
| Even-plus syndrome | 1 test |
| Ewing sarcoma | 3 tests |
| Exercise-induced hyperinsulinism | 1 test |
| Exostoses, multiple, type 1 | 7 tests |
| Exostoses, multiple, type 2 | 2 tests |
| Extraskeletal myxoid chondrosarcoma | 3 tests |
| Exudative vitreoretinopathy 1 | 2 tests |
| Exudative vitreoretinopathy 2, X-linked | 5 tests |
| Exudative vitreoretinopathy 4 | 5 tests |
| Exudative vitreoretinopathy 5 | 2 tests |
| Exudative vitreoretinopathy 6 | 2 tests |
| Exudative vitreoretinopathy 7 | 1 test |
| FADD-related immunodeficiency | 4 tests |
| FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 | 3 tests |
| FG syndrome 1 | 2 tests |
| FG syndrome 2 | 1 test |
| FG syndrome 4 | 9 tests |
| FRAXE | 2 tests |
| Fabry disease | 16 tests |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 3 tests |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 2 tests |
| Facial paresis, hereditary congenital, 3 | 2 tests |
| Facioscapulohumeral muscular dystrophy 2 | 5 tests |
| Facioscapulohumeral muscular dystrophy 4, digenic | 1 test |
| Factor 5 and Factor VIII, combined deficiency of, 2 | 2 tests |
| Factor H deficiency | 3 tests |
| Factor I deficiency | 1 test |
| Factor V and factor VIII, combined deficiency of, type 1 | 2 tests |
| Factor V deficiency | 1 test |
| Factor XII deficiency disease | 1 test |
| Factor XIII, A subunit, deficiency of | 1 test |
| Factor XIII, b subunit, deficiency of | 2 tests |
| Familial Mediterranean fever | 2 tests |
| Familial Mediterranean fever, autosomal dominant | 4 tests |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 6 tests |
| Familial acute necrotizing encephalopathy | 1 test |
| Familial adenomatous polyposis 1 | 6 tests |
| Familial adenomatous polyposis 2 | 5 tests |
| Familial adenomatous polyposis 3 | 6 tests |
| Familial adenomatous polyposis 4 | 3 tests |
| Familial amyloid nephropathy with urticaria AND deafness | 5 tests |
| Familial apolipoprotein C-II deficiency | 5 tests |
| Familial atrial myxoma | 1 test |
| Familial benign flecked retina | 2 tests |
| Familial cancer of breast | 32 tests |
| Familial cold autoinflammatory syndrome 1 | 1 test |
| Familial cold autoinflammatory syndrome 2 | 3 tests |
| Familial cold autoinflammatory syndrome 3 | 1 test |
| Familial cold autoinflammatory syndrome 4 | 3 tests |
| Familial colorectal cancer type X | 1 test |
| Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2 tests |
| Familial cylindromatosis | 1 test |
| Familial digital arthropathy-brachydactyly | 9 tests |
| Familial dysautonomia | 1 test |
| Familial dysfibrinogenemia | 8 tests |
| Familial encephalopathy with neuroserpin inclusion bodies | 4 tests |
| Familial episodic pain syndrome with predominantly lower limb involvement | 1 test |
| Familial expansile osteolysis | 3 tests |
| Familial gestational hyperthyroidism | 4 tests |
| Familial hemophagocytic lymphohistiocytosis 2 | 1 test |
| Familial hemophagocytic lymphohistiocytosis 3 | 4 tests |
| Familial hemophagocytic lymphohistiocytosis 4 | 3 tests |
| Familial hemophagocytic lymphohistiocytosis 5 | 4 tests |
| Familial hyperaldosteronism type II | 1 test |
| Familial hyperaldosteronism type III | 1 test |
| Familial hyperkalemic periodic paralysis | 1 test |
| Familial hyperthyroidism due to mutations in TSH receptor | 2 tests |
| Familial hypobetalipoproteinemia 1 | 1 test |
| Familial hypobetalipoproteinemia 2 | 2 tests |
| Familial hypocalciuric hypercalcemia 1 | 1 test |
| Familial hypocalciuric hypercalcemia 2 | 1 test |
| Familial hypocalciuric hypercalcemia 3 | 5 tests |
| Familial hypokalemia-hypomagnesemia | 7 tests |
| Familial infantile bilateral striatal necrosis | 3 tests |
| Familial infantile myasthenia | 8 tests |
| Familial infantile myoclonic epilepsy | 1 test |
| Familial isolated congenital asplenia | 1 test |
| Familial isolated deficiency of vitamin E | 5 tests |
| Familial isolated dilated cardiomyopathy | 1 test |
| Familial juvenile hyperuricemic nephropathy type 1 | 3 tests |
| Familial juvenile hyperuricemic nephropathy type 2 | 1 test |
| Familial medullary thyroid carcinoma | 5 tests |
| Familial melanoma | 1 test |
| Familial meningioma | 15 tests |
| Familial multiple nevi flammei | 1 test |
| Familial partial lipodystrophy, Dunnigan type | 1 test |
| Familial porphyria cutanea tarda | 6 tests |
| Familial pseudohyperkalemia | 6 tests |
| Familial pulmonary capillary hemangiomatosis | 2 tests |
| Familial renal glucosuria | 1 test |
| Familial retinal arterial macroaneurysm | 1 test |
| Familial scaphocephaly syndrome, McGillivray type | 1 test |
| Familial spontaneous pneumothorax | 1 test |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 7 tests |
| Familial temporal lobe epilepsy 5 | 3 tests |
| Familial temporal lobe epilepsy 7 | 5 tests |
| Familial type 3 hyperlipoproteinemia | 1 test |
| Familial type 5 hyperlipoproteinemia | 1 test |
| Familial visceral amyloidosis, Ostertag type | 7 tests |
| Fanconi anemia complementation group A | 7 tests |
| Fanconi anemia complementation group B | 5 tests |
| Fanconi anemia complementation group C | 7 tests |
| Fanconi anemia complementation group D1 | 12 tests |
| Fanconi anemia complementation group D2 | 3 tests |
| Fanconi anemia complementation group E | 1 test |
| Fanconi anemia complementation group F | 2 tests |
| Fanconi anemia complementation group G | 3 tests |
| Fanconi anemia complementation group I | 3 tests |
| Fanconi anemia complementation group J | 5 tests |
| Fanconi anemia complementation group L | 3 tests |
| Fanconi anemia complementation group N | 7 tests |
| Fanconi anemia complementation group O | 6 tests |
| Fanconi anemia complementation group P | 3 tests |
| Fanconi anemia complementation group Q | 2 tests |
| Fanconi anemia complementation group R | 1 test |
| Fanconi anemia complementation group T | 2 tests |
| Fanconi anemia complementation group U | 4 tests |
| Fanconi anemia, complementation group S | 14 tests |
| Fanconi renotubular syndrome 1 | 7 tests |
| Fanconi renotubular syndrome 2 | 1 test |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 test |
| Fanconi renotubular syndrome 5 | 9 tests |
| Fanconi-Bickel syndrome | 1 test |
| Farber lipogranulomatosis | 8 tests |
| Fasting plasma glucose level quantitative trait locus 5 | 2 tests |
| Fatal familial insomnia | 2 tests |
| Fatal infantile hypertonic myofibrillar myopathy | 5 tests |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 8 tests |
| Febrile seizures, familial, 11 | 1 test |
| Febrile seizures, familial, 4 | 1 test |
| Febrile seizures, familial, 8 | 3 tests |
| Feingold syndrome type 1 | 5 tests |
| Female infertility due to zona pellucida defect | 2 tests |
| Fetal akinesia deformation sequence 1 | 5 tests |
| Fetal akinesia deformation sequence 2 | 1 test |
| Fetal akinesia deformation sequence 3 | 1 test |
| Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 5 tests |
| Fetal akinesia-cerebral and retinal hemorrhage syndrome | 1 test |
| Fibrillary astrocytoma | 2 tests |
| Fibrochondrogenesis 1 | 1 test |
| Fibrochondrogenesis 2 | 1 test |
| Fibromatosis, gingival, 1 | 6 tests |
| Fibromatosis, gingival, 5 | 1 test |
| Fibromuscular dysplasia, multifocal | 1 test |
| Fibrosarcoma | 1 test |
| Fibrosis of extraocular muscles, congenital, 2 | 1 test |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 4 tests |
| Finnish congenital nephrotic syndrome | 4 tests |
| Finnish type amyloidosis | 1 test |
| Fish-eye disease | 5 tests |
| Fissured tongue | 1 test |
| Floating-Harbor syndrome | 3 tests |
| Focal dermal hypoplasia | 4 tests |
| Focal facial dermal dysplasia type III | 1 test |
| Focal segmental glomerulosclerosis 1 | 4 tests |
| Focal segmental glomerulosclerosis 2 | 5 tests |
| Focal segmental glomerulosclerosis 3, susceptibility to | 3 tests |
| Focal segmental glomerulosclerosis 4, susceptibility to | 1 test |
| Focal segmental glomerulosclerosis 5 | 1 test |
| Focal segmental glomerulosclerosis 6 | 5 tests |
| Focal segmental glomerulosclerosis 7 | 1 test |
| Focal segmental glomerulosclerosis 8 | 3 tests |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 3 tests |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 4 tests |
| Foveal hypoplasia 1 | 10 tests |
| Fowler syndrome | 3 tests |
| Fragile X syndrome | 3 tests |
| Fragile X-associated tremor/ataxia syndrome | 6 tests |
| Frank-Ter Haar syndrome | 5 tests |
| Fraser syndrome 1 | 7 tests |
| Fraser syndrome 2 | 1 test |
| Fraser syndrome 3 | 8 tests |
| Frasier syndrome | 3 tests |
| Freeman-Sheldon syndrome | 4 tests |
| Friedreich ataxia 1 | 7 tests |
| Frontometaphyseal dysplasia 1 | 1 test |
| Frontometaphyseal dysplasia 2 | 1 test |
| Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 3 tests |
| Frontonasal dysplasia with alopecia and genital anomaly | 4 tests |
| Frontorhiny | 1 test |
| Frontotemporal dementia | 2 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 2 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 3 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 3 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | 3 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 8 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 4 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 | 1 test |
| Fructose-biphosphatase deficiency | 5 tests |
| Fucosidosis | 11 tests |
| Fuhrmann syndrome | 1 test |
| Fumarase deficiency | 1 test |
| GAPO syndrome | 2 tests |
| GM1 gangliosidosis type 2 | 1 test |
| GM1 gangliosidosis type 3 | 6 tests |
| GM3 synthase deficiency | 3 tests |
| GNE myopathy | 1 test |
| GNPTG-mucolipidosis | 6 tests |
| GRACILE syndrome | 1 test |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 8 tests |
| GTP cyclohydrolase I deficiency with hyperphenylalaninemia | 7 tests |
| Gabriele de Vries syndrome | 3 tests |
| Galactosylceramide beta-galactosidase deficiency | 10 tests |
| Gallbladder disease 4 | 1 test |
| Galloway-Mowat syndrome 1 | 5 tests |
| Galloway-Mowat syndrome 2, X-linked | 2 tests |
| Galloway-Mowat syndrome 3 | 6 tests |
| Galloway-Mowat syndrome 4 | 2 tests |
| Galloway-Mowat syndrome 5 | 3 tests |
| Galloway-Mowat syndrome 6 | 3 tests |
| Galloway-Mowat syndrome 7 | 1 test |
| Galloway-Mowat syndrome 8 | 5 tests |
| Gamma-aminobutyric acid transaminase deficiency | 6 tests |
| Gamma-glutamylcysteine synthetase deficiency | 2 tests |
| Gastric adenocarcinoma and proximal polyposis of the stomach | 6 tests |
| Gastric cancer | 9 tests |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 3 tests |
| Gastrointestinal stromal tumor | 10 tests |
| Gaucher disease | 6 tests |
| Gaucher disease due to saposin C deficiency | 1 test |
| Gaucher disease perinatal lethal | 1 test |
| Gaucher disease type I | 12 tests |
| Gaucher disease type II | 1 test |
| Gaucher disease type III | 1 test |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 1 test |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 1 test |
| Gaze palsy, familial horizontal, with progressive scoliosis, 2 | 1 test |
| Geleophysic dysplasia 1 | 5 tests |
| Geleophysic dysplasia 2 | 2 tests |
| Geleophysic dysplasia 3 | 1 test |
| Gemistocytic astrocytoma | 2 tests |
| Generalized dominant dystrophic epidermolysis bullosa | 1 test |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 test |
| Generalized epilepsy with febrile seizures plus, type 2 | 2 tests |
| Generalized epilepsy with febrile seizures plus, type 9 | 3 tests |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 test |
| Genitopatellar syndrome | 6 tests |
| Germ cell tumor of testis | 5 tests |
| Geroderma osteodysplastica | 5 tests |
| Gerstmann-Straussler-Scheinker syndrome | 1 test |
| Ghosal hematodiaphyseal dysplasia | 3 tests |
| Giant axonal neuropathy 1 | 6 tests |
| Gilbert syndrome | 1 test |
| Gillespie syndrome | 5 tests |
| Gillessen-Kaesbach-Nishimura syndrome | 7 tests |
| Glanzmann thrombasthenia 1 | 1 test |
| Glaucoma 1, open angle, A | 2 tests |
| Glaucoma 1, open angle, F | 2 tests |
| Glaucoma 1, open angle, G | 2 tests |
| Glaucoma 1, open angle, O | 2 tests |
| Glaucoma 3, primary congenital, D | 1 test |
| Glaucoma 3, primary congenital, E | 1 test |
| Glaucoma 3A | 1 test |
| Glaucoma, normal tension, susceptibility to | 2 tests |
| Glaucoma, primary closed-angle | 1 test |
| Glioma susceptibility 1 | 8 tests |
| Glioma susceptibility 2 | 7 tests |
| Glioma susceptibility 3 | 12 tests |
| Global developmental delay with or without impaired intellectual development | 2 tests |
| Glomerulopathy with fibronectin deposits 2 | 1 test |
| Glucocorticoid deficiency 1 | 1 test |
| Glucocorticoid deficiency 2 | 1 test |
| Glucocorticoid deficiency 4 | 3 tests |
| Glucocorticoid deficiency with achalasia | 4 tests |
| Glucocorticoid resistance | 2 tests |
| Glucocorticoid-remediable aldosteronism | 2 tests |
| Glucose-6-phosphate transport defect | 1 test |
| Glutamate pyruvate transaminase 2 deficiency | 4 tests |
| Glutaric aciduria, type 1 | 9 tests |
| Glutaryl-CoA oxidase deficiency | 4 tests |
| Glutathione synthetase deficiency with 5-oxoprolinuria | 4 tests |
| Glutathione synthetase deficiency without 5-oxoprolinuria | 2 tests |
| Gluthathione peroxidase deficiency | 5 tests |
| Glycine N-methyltransferase deficiency | 3 tests |
| Glycogen storage disease IXa1 | 4 tests |
| Glycogen storage disease IXb | 4 tests |
| Glycogen storage disease IXc | 5 tests |
| Glycogen storage disease IXd | 6 tests |
| Glycogen storage disease XV | 5 tests |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 6 tests |
| Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | 1 test |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 6 tests |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 6 tests |
| Glycogen storage disease due to muscle beta-enolase deficiency | 6 tests |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 9 tests |
| Glycogen storage disease type III | 9 tests |
| Glycogen storage disease type X | 6 tests |
| Glycogen storage disease, type II | 16 tests |
| Glycogen storage disease, type IV | 1 test |
| Glycogen storage disease, type V | 7 tests |
| Glycogen storage disease, type VI | 5 tests |
| Glycogen storage disease, type VII | 8 tests |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 5 tests |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 3 tests |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 3 tests |
| Glycosylphosphatidylinositol biosynthesis defect 17 | 3 tests |
| Glycosylphosphatidylinositol biosynthesis defect 18 | 3 tests |
| Glycosylphosphatidylinositol biosynthesis defect 21 | 3 tests |
| Gnathodiaphyseal dysplasia | 1 test |
| Gnb5-related intellectual disability-cardiac arrhythmia syndrome | 1 test |
| Goldberg-Shprintzen syndrome | 4 tests |
| Gonadotropin-independent familial sexual precocity | 1 test |
| Gordon syndrome | 1 test |
| Gorlin syndrome | 8 tests |
| Granulomatous disease, chronic, X-linked | 2 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 1 test |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 2 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 2 tests |
| Gray platelet syndrome | 3 tests |
| Grebe syndrome | 1 test |
| Greenberg dysplasia | 1 test |
| Greig cephalopolysyndactyly syndrome | 8 tests |
| Griscelli syndrome type 1 | 8 tests |
| Griscelli syndrome type 2 | 8 tests |
| Griscelli syndrome type 3 | 6 tests |
| Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 5 tests |
| Growth delay due to insulin-like growth factor I resistance | 6 tests |
| Growth delay due to insulin-like growth factor type 1 deficiency | 4 tests |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 test |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 test |
| Guillain-Barre syndrome, familial | 2 tests |
| H syndrome | 5 tests |
| HNSHA due to aldolase A deficiency | 8 tests |
| HSD10 mitochondrial disease | 6 tests |
| Haddad syndrome | 1 test |
| Haim-Munk syndrome | 1 test |
| Hair morphology 1 | 3 tests |
| Hajdu-Cheney syndrome | 10 tests |
| Hand-foot-genital syndrome | 4 tests |
| Harderoporphyria | 5 tests |
| Hartsfield-Bixler-Demyer syndrome | 7 tests |
| Hashimoto thyroiditis | 1 test |
| Hawkinsinuria | 1 test |
| Hb SS disease | 2 tests |
| Hearing loss, X-linked 4 | 2 tests |
| Hearing loss, X-linked 6 | 2 tests |
| Hearing loss, autosomal dominant 34, with or without inflammation | 1 test |
| Hearing loss, autosomal dominant 37 | 2 tests |
| Hearing loss, autosomal dominant 71 | 3 tests |
| Hearing loss, autosomal dominant 72 | 1 test |
| Hearing loss, autosomal dominant 75 | 3 tests |
| Hearing loss, autosomal dominant 80 | 1 test |
| Hearing loss, autosomal dominant 81 | 1 test |
| Hearing loss, autosomal dominant 82 | 1 test |
| Hearing loss, autosomal recessive 106 | 1 test |
| Hearing loss, autosomal recessive 107 | 1 test |
| Hearing loss, autosomal recessive 108 | 1 test |
| Hearing loss, autosomal recessive 109 | 1 test |
| Hearing loss, autosomal recessive 110 | 2 tests |
| Hearing loss, autosomal recessive 111 | 1 test |
| Hearing loss, autosomal recessive 112 | 1 test |
| Hearing loss, autosomal recessive 113 | 1 test |
| Hearing loss, autosomal recessive 57 | 3 tests |
| Hearing loss, autosomal recessive 94 | 1 test |
| Heart and brain malformation syndrome | 1 test |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | 1 test |
| Heart-hand syndrome, Slovenian type | 9 tests |
| Hecht syndrome | 1 test |
| Heimler syndrome 1 | 12 tests |
| Heimler syndrome 2 | 11 tests |
| Heinz body anemia | 11 tests |
| Helicobacter pylori infection, susceptibility to | 1 test |
| Helicoid peripapillary chorioretinal degeneration | 1 test |
| Heme oxygenase 1 deficiency | 1 test |
| Hemochromatosis type 1 | 2 tests |
| Hemochromatosis type 2A | 4 tests |
| Hemochromatosis type 2B | 7 tests |
| Hemochromatosis type 3 | 9 tests |
| Hemochromatosis type 4 | 3 tests |
| Hemoglobin H disease | 9 tests |
| Hemoglobin Lepore-beta-thalassemia syndrome | 1 test |
| Hemolytic anemia due to adenylate kinase deficiency | 2 tests |
| Hemolytic anemia due to erythrocyte adenosine deaminase overproduction | 1 test |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 4 tests |
| Hemolytic anemia due to glutathione reductase deficiency | 3 tests |
| Hemolytic anemia due to hexokinase deficiency | 1 test |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 2 tests |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 5 tests |
| Hemorrhage, intracerebral, susceptibility to | 2 tests |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 2 tests |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 1 test |
| Heparin cofactor II deficiency | 2 tests |
| Hepatic adenomas, familial | 2 tests |
| Hepatic methionine adenosyltransferase deficiency | 2 tests |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | 2 tests |
| Hepatitis B virus, susceptibility to | 3 tests |
| Hepatitis C virus, susceptibility to | 4 tests |
| Hepatocellular carcinoma | 16 tests |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 10 tests |
| Hereditary acrodermatitis enteropathica | 2 tests |
| Hereditary angioedema type 1 | 4 tests |
| Hereditary angioedema type 3 | 4 tests |
| Hereditary antithrombin deficiency | 3 tests |
| Hereditary arterial and articular multiple calcification syndrome | 2 tests |
| Hereditary cerebral amyloid angiopathy, Icelandic type | 1 test |
| Hereditary coproporphyria | 4 tests |
| Hereditary cryohydrocytosis with reduced stomatin | 2 tests |
| Hereditary diffuse gastric adenocarcinoma | 7 tests |
| Hereditary disease | 4 tests |
| Hereditary factor IX deficiency disease | 1 test |
| Hereditary factor VIII deficiency disease | 5 tests |
| Hereditary factor X deficiency disease | 3 tests |
| Hereditary factor XI deficiency disease | 4 tests |
| Hereditary fructosuria | 9 tests |
| Hereditary hyperferritinemia with congenital cataracts | 1 test |
| Hereditary insensitivity to pain with anhidrosis | 6 tests |
| Hereditary intrinsic factor deficiency | 3 tests |
| Hereditary leiomyomatosis and renal cell cancer | 12 tests |
| Hereditary liability to pressure palsies | 2 tests |
| Hereditary mixed polyposis syndrome | 1 test |
| Hereditary motor and sensory neuropathy, Okinawa type | 1 test |
| Hereditary myopathy with lactic acidosis due to ISCU deficiency | 6 tests |
| Hereditary neutrophilia | 3 tests |
| Hereditary pancreatitis | 9 tests |
| Hereditary persistence of fetal hemoglobin | 2 tests |
| Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | 1 test |
| Hereditary sensory and autonomic neuropathy type 6 | 1 test |
| Hereditary sensory and autonomic neuropathy type 7 | 1 test |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 5 tests |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 1 test |
| Hereditary spastic paraplegia 10 | 9 tests |
| Hereditary spastic paraplegia 12 | 5 tests |
| Hereditary spastic paraplegia 13 | 4 tests |
| Hereditary spastic paraplegia 15 | 9 tests |
| Hereditary spastic paraplegia 17 | 1 test |
| Hereditary spastic paraplegia 18 | 5 tests |
| Hereditary spastic paraplegia 2 | 9 tests |
| Hereditary spastic paraplegia 23 | 1 test |
| Hereditary spastic paraplegia 26 | 5 tests |
| Hereditary spastic paraplegia 28 | 5 tests |
| Hereditary spastic paraplegia 30 | 7 tests |
| Hereditary spastic paraplegia 31 | 1 test |
| Hereditary spastic paraplegia 33 | 4 tests |
| Hereditary spastic paraplegia 35 | 5 tests |
| Hereditary spastic paraplegia 39 | 1 test |
| Hereditary spastic paraplegia 3A | 1 test |
| Hereditary spastic paraplegia 4 | 8 tests |
| Hereditary spastic paraplegia 42 | 3 tests |
| Hereditary spastic paraplegia 43 | 9 tests |
| Hereditary spastic paraplegia 45 | 5 tests |
| Hereditary spastic paraplegia 46 | 5 tests |
| Hereditary spastic paraplegia 47 | 7 tests |
| Hereditary spastic paraplegia 48 | 5 tests |
| Hereditary spastic paraplegia 49 | 6 tests |
| Hereditary spastic paraplegia 50 | 9 tests |
| Hereditary spastic paraplegia 51 | 6 tests |
| Hereditary spastic paraplegia 53 | 5 tests |
| Hereditary spastic paraplegia 54 | 5 tests |
| Hereditary spastic paraplegia 55 | 5 tests |
| Hereditary spastic paraplegia 56 | 6 tests |
| Hereditary spastic paraplegia 57 | 7 tests |
| Hereditary spastic paraplegia 5A | 2 tests |
| Hereditary spastic paraplegia 6 | 5 tests |
| Hereditary spastic paraplegia 61 | 5 tests |
| Hereditary spastic paraplegia 62 | 5 tests |
| Hereditary spastic paraplegia 63 | 1 test |
| Hereditary spastic paraplegia 64 | 5 tests |
| Hereditary spastic paraplegia 7 | 8 tests |
| Hereditary spastic paraplegia 72 | 5 tests |
| Hereditary spastic paraplegia 73 | 6 tests |
| Hereditary spastic paraplegia 75 | 5 tests |
| Hereditary spastic paraplegia 77 | 8 tests |
| Hereditary spastic paraplegia 8 | 1 test |
| Hereditary spastic paraplegia 9A | 12 tests |
| Hereditary spherocytosis type 1 | 3 tests |
| Hereditary spherocytosis type 2 | 1 test |
| Hereditary spherocytosis type 3 | 4 tests |
| Hereditary spherocytosis type 4 | 6 tests |
| Hereditary spherocytosis type 5 | 4 tests |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 5 tests |
| Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | 2 tests |
| Hereditary xanthinuria type 1 | 1 test |
| Hermansky-Pudlak syndrome 1 | 10 tests |
| Hermansky-Pudlak syndrome 10 | 2 tests |
| Hermansky-Pudlak syndrome 2 | 10 tests |
| Hermansky-Pudlak syndrome 3 | 8 tests |
| Hermansky-Pudlak syndrome 4 | 10 tests |
| Hermansky-Pudlak syndrome 5 | 10 tests |
| Hermansky-Pudlak syndrome 6 | 10 tests |
| Hermansky-Pudlak syndrome 7 | 9 tests |
| Hermansky-Pudlak syndrome 8 | 7 tests |
| Hermansky-Pudlak syndrome 9 | 7 tests |
| Herpes simplex encephalitis, susceptibility to, 4 | 2 tests |
| Heterotaxy | 1 test |
| Heterotaxy, visceral, 1, X-linked | 6 tests |
| Heterotaxy, visceral, 4, autosomal | 5 tests |
| Heterotaxy, visceral, 5, autosomal | 5 tests |
| Heterotaxy, visceral, 6, autosomal | 5 tests |
| Heterotaxy, visceral, 7, autosomal | 4 tests |
| Heterotaxy, visceral, 8, autosomal | 5 tests |
| Heterotopia, periventricular, X-linked dominant | 1 test |
| Heyn-Sproul-Jackson syndrome | 2 tests |
| Hiatt-Neu-Cooper neurodevelopmental syndrome | 3 tests |
| Hidrotic ectodermal dysplasia syndrome | 1 test |
| High density lipoprotein cholesterol level quantitative trait locus 12 | 1 test |
| High myopia-sensorineural deafness syndrome | 1 test |
| Hirschsprung disease, cardiac defects, and autonomic dysfunction | 1 test |
| Hirschsprung disease, susceptibility to, 1 | 2 tests |
| Hirschsprung disease, susceptibility to, 2 | 1 test |
| Hirschsprung disease, susceptibility to, 3 | 5 tests |
| Hirschsprung disease, susceptibility to, 4 | 1 test |
| Histiocytic medullary reticulosis | 2 tests |
| Hogue-Janssens syndrome 1 | 3 tests |
| Holocarboxylase synthetase deficiency | 8 tests |
| Holoprosencephaly 11 | 4 tests |
| Holoprosencephaly 12 with or without pancreatic agenesis | 1 test |
| Holoprosencephaly 13, X-linked | 1 test |
| Holoprosencephaly 2 | 1 test |
| Holoprosencephaly 3 | 4 tests |
| Holoprosencephaly 4 | 4 tests |
| Holoprosencephaly 5 | 4 tests |
| Holoprosencephaly 9 | 1 test |
| Holt-Oram syndrome | 6 tests |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 test |
| Houge-Janssens syndrome 2 | 5 tests |
| Houge-Janssens syndrome 3 | 3 tests |
| Human HOXA1 syndromes | 3 tests |
| Huntington disease | 2 tests |
| Huntington disease-like 1 | 3 tests |
| Huntington disease-like 2 | 1 test |
| Huppke-Brendel syndrome | 6 tests |
| Hurler syndrome | 6 tests |
| Hutchinson-Gilford syndrome | 1 test |
| Hyaline fibromatosis syndrome | 4 tests |
| Hydatidiform mole, recurrent, 1 | 1 test |
| Hydatidiform mole, recurrent, 2 | 2 tests |
| Hydrocephalus, congenital, 3, with brain anomalies | 1 test |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 1 test |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 3 tests |
| Hydrolethalus syndrome 1 | 4 tests |
| Hydrolethalus syndrome 2 | 2 tests |
| Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 1 test |
| Hydroxykynureninuria | 1 test |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 test |
| Hyper-IgM syndrome type 1 | 5 tests |
| Hyper-IgM syndrome type 2 | 3 tests |
| Hyper-IgM syndrome type 3 | 3 tests |
| Hyper-IgM syndrome type 5 | 5 tests |
| Hyperalphalipoproteinemia 1 | 4 tests |
| Hyperammonemia, type III | 8 tests |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 4 tests |
| Hypercalcemia, infantile, 1 | 4 tests |
| Hypercalcemia, infantile, 2 | 4 tests |
| Hypercholanemia, familial 1 | 1 test |
| Hypercholesterolemia, autosomal dominant, 3 | 4 tests |
| Hypercholesterolemia, autosomal dominant, type B | 5 tests |
| Hypercholesterolemia, familial, 1 | 10 tests |
| Hypercholesterolemia, familial, 4 | 4 tests |
| Hyperekplexia 1 | 5 tests |
| Hyperekplexia 2 | 5 tests |
| Hyperekplexia 3 | 4 tests |
| Hyperekplexia 4 | 3 tests |
| Hyperglycinuria | 1 test |
| Hyperimmunoglobulin D with periodic fever | 1 test |
| Hyperinsulinemic hypoglycemia, familial, 1 | 2 tests |
| Hyperinsulinemic hypoglycemia, familial, 2 | 2 tests |
| Hyperinsulinemic hypoglycemia, familial, 4 | 7 tests |
| Hyperinsulinism due to INSR deficiency | 1 test |
| Hyperinsulinism due to glucokinase deficiency | 1 test |
| Hyperinsulinism-hyperammonemia syndrome | 6 tests |
| Hyperlipidemia due to hepatic triglyceride lipase deficiency | 1 test |
| Hyperlipidemia, familial combined, LPL related | 1 test |
| Hyperlipoproteinemia type IV | 1 test |
| Hyperlipoproteinemia, type 1D | 3 tests |
| Hyperlipoproteinemia, type I | 6 tests |
| Hyperlysinemia | 4 tests |
| Hypermanganesemia with dystonia 2 | 2 tests |
| Hypermanganesemia with dystonia, polycythemia, and cirrhosis | 3 tests |
| Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 5 tests |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 10 tests |
| Hyperostosis cranialis interna | 1 test |
| Hyperparathyroidism 1 | 1 test |
| Hyperparathyroidism 2 with jaw tumors | 2 tests |
| Hyperparathyroidism 4 | 1 test |
| Hyperphenylalaninemia due to DNAJC12 deficiency | 3 tests |
| Hyperphosphatasemia with bone disease | 5 tests |
| Hyperphosphatasia with intellectual disability syndrome 1 | 6 tests |
| Hyperphosphatasia with intellectual disability syndrome 2 | 4 tests |
| Hyperphosphatasia with intellectual disability syndrome 3 | 3 tests |
| Hyperphosphatasia with intellectual disability syndrome 4 | 1 test |
| Hyperphosphatasia with intellectual disability syndrome 5 | 3 tests |
| Hyperpigmentation with or without hypopigmentation, familial progressive | 3 tests |
| Hyperproinsulinemia | 1 test |
| Hyperprolinemia type 2 | 6 tests |
| Hyperthyroxinemia, dystransthyretinemic | 1 test |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 test |
| Hypertriglyceridemia 1 | 5 tests |
| Hypertrophic cardiomyopathy 1 | 4 tests |
| Hypertrophic cardiomyopathy 10 | 3 tests |
| Hypertrophic cardiomyopathy 11 | 1 test |
| Hypertrophic cardiomyopathy 12 | 4 tests |
| Hypertrophic cardiomyopathy 13 | 2 tests |
| Hypertrophic cardiomyopathy 14 | 1 test |
| Hypertrophic cardiomyopathy 15 | 2 tests |
| Hypertrophic cardiomyopathy 16 | 2 tests |
| Hypertrophic cardiomyopathy 17 | 1 test |
| Hypertrophic cardiomyopathy 18 | 4 tests |
| Hypertrophic cardiomyopathy 2 | 2 tests |
| Hypertrophic cardiomyopathy 20 | 1 test |
| Hypertrophic cardiomyopathy 25 | 5 tests |
| Hypertrophic cardiomyopathy 26 | 2 tests |
| Hypertrophic cardiomyopathy 3 | 2 tests |
| Hypertrophic cardiomyopathy 4 | 1 test |
| Hypertrophic cardiomyopathy 6 | 1 test |
| Hypertrophic cardiomyopathy 7 | 1 test |
| Hypertrophic cardiomyopathy 8 | 2 tests |
| Hypertrophic cardiomyopathy 9 | 1 test |
| Hypertrophic osteoarthropathy, primary, autosomal dominant | 2 tests |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 4 tests |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 1 test |
| Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 6 tests |
| Hyperuricemic nephropathy, familial juvenile type 4 | 3 tests |
| Hypervalinemia and hyperleucine-isoleucinemia | 1 test |
| Hypoalphalipoproteinemia, primary, 1 | 1 test |
| Hypoalphalipoproteinemia, primary, 2 | 1 test |
| Hypoalphalipoproteinemia, primary, 2, intermediate | 1 test |
| Hypochondroplasia | 1 test |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 10 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 11 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 12 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 13 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 15 with or without anosmia | 3 tests |
| Hypogonadotropic hypogonadism 16 with or without anosmia | 5 tests |
| Hypogonadotropic hypogonadism 17 with or without anosmia | 5 tests |
| Hypogonadotropic hypogonadism 18 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 19 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 20 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 21 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 22 with or without anosmia | 6 tests |
| Hypogonadotropic hypogonadism 24 without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 26 with or without anosmia | 2 tests |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 4 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 12 tests |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 3 tests |
| Hypogonadotropic hypogonadism 9 with or without anosmia | 4 tests |
| Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | 1 test |
| Hypohidrotic X-linked ectodermal dysplasia | 3 tests |
| Hypoinsulinemic hypoglycemia and body hemihypertrophy | 5 tests |
| Hypokalemic periodic paralysis, type 1 | 3 tests |
| Hypokalemic periodic paralysis, type 2 | 7 tests |
| Hypomagnesemia, seizures, and intellectual disability 1 | 4 tests |
| Hypomagnesemia, seizures, and intellectual disability 2 | 1 test |
| Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 1 test |
| Hypomyelinating leukodystrophy 10 | 7 tests |
| Hypomyelinating leukodystrophy 11 | 1 test |
| Hypomyelinating leukodystrophy 12 | 1 test |
| Hypomyelinating leukodystrophy 13 | 4 tests |
| Hypomyelinating leukodystrophy 3 | 8 tests |
| Hypomyelinating leukodystrophy 4 | 9 tests |
| Hypomyelinating leukodystrophy 6 | 3 tests |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 1 test |
| Hypomyelinating leukodystrophy 9 | 7 tests |
| Hypomyelination and Congenital Cataract | 6 tests |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 7 tests |
| Hypoparathyroidism, deafness, renal disease syndrome | 4 tests |
| Hypoparathyroidism, familial isolated 1 | 1 test |
| Hypoparathyroidism, familial isolated, 2 | 1 test |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 1 test |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 1 test |
| Hypophosphatemic nephrolithiasis/osteoporosis 2 | 2 tests |
| Hypophosphatemic rickets, X-linked recessive | 5 tests |
| Hypophosphatemic rickets, autosomal recessive, 1 | 5 tests |
| Hypophosphatemic rickets, autosomal recessive, 2 | 6 tests |
| Hypopigmentation, organomegaly, and delayed myelination and development | 4 tests |
| Hypopigmentation-punctate palmoplantar keratoderma syndrome | 3 tests |
| Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 3 tests |
| Hypoplastic left heart syndrome 2 | 2 tests |
| Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | 4 tests |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 1 test |
| Hypoproteinemia, hypercatabolic | 1 test |
| Hypospadias 1, X-linked | 3 tests |
| Hypospadias 2, X-linked | 4 tests |
| Hypothalamic hypothyroidism | 2 tests |
| Hypothyroidism due to TSH receptor mutations | 2 tests |
| Hypothyroidism, congenital, nongoitrous, 2 | 2 tests |
| Hypothyroidism, congenital, nongoitrous, 5 | 4 tests |
| Hypothyroidism, congenital, nongoitrous, 7 | 2 tests |
| Hypothyroidism, congenital, nongoitrous, 8 | 2 tests |
| Hypothyroidism, congenital, nongoitrous, 9 | 1 test |
| Hypotonia with lactic acidemia and hyperammonemia | 7 tests |
| Hypotonia, ataxia, and delayed development syndrome | 5 tests |
| Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | 2 tests |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 6 tests |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 6 tests |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 4 tests |
| Hypotrichosis 1 | 2 tests |
| Hypotrichosis 11 | 2 tests |
| Hypotrichosis 12 | 2 tests |
| Hypotrichosis 13 | 1 test |
| Hypotrichosis 14 | 2 tests |
| Hypotrichosis 2 | 2 tests |
| Hypotrichosis 3 | 2 tests |
| Hypotrichosis 4 | 1 test |
| Hypotrichosis 6 | 2 tests |
| Hypotrichosis 7 | 3 tests |
| Hypotrichosis 8 | 2 tests |
| IFAP syndrome 1, with or without BRESHECK syndrome | 7 tests |
| IMAGe syndrome | 3 tests |
| Ichthyosis bullosa of Siemens | 2 tests |
| Ichthyosis hystrix of Curth-Macklin | 2 tests |
| Ichthyosis prematurity syndrome | 4 tests |
| Ichthyosis vulgaris | 1 test |
| Ichthyosis, congenital, autosomal recessive 12 | 2 tests |
| Ichthyosis, congenital, autosomal recessive 13 | 2 tests |
| Ichthyosis, hystrix-like, with hearing loss | 1 test |
| Idiopathic basal ganglia calcification 1 | 5 tests |
| IgE responsiveness, atopic | 1 test |
| Imerslund-Grasbeck syndrome type 1 | 4 tests |
| Imerslund-Grasbeck syndrome type 2 | 2 tests |
| Iminoglycinuria | 1 test |
| Immunodeficiency 104 | 4 tests |
| Immunodeficiency 105 | 1 test |
| Immunodeficiency 11b with atopic dermatitis | 1 test |
| Immunodeficiency 14b, autosomal recessive | 2 tests |
| Immunodeficiency 15a | 5 tests |
| Immunodeficiency 18 | 3 tests |
| Immunodeficiency 19 | 3 tests |
| Immunodeficiency 23 | 2 tests |
| Immunodeficiency 25 | 3 tests |
| Immunodeficiency 27A | 1 test |
| Immunodeficiency 31B | 1 test |
| Immunodeficiency 32B | 1 test |
| Immunodeficiency 33 | 1 test |
| Immunodeficiency 35 | 2 tests |
| Immunodeficiency 36 | 2 tests |
| Immunodeficiency 47 | 3 tests |
| Immunodeficiency 51 | 2 tests |
| Immunodeficiency 57 | 2 tests |
| Immunodeficiency 60 | 2 tests |
| Immunodeficiency 64 | 2 tests |
| Immunodeficiency 67 | 2 tests |
| Immunodeficiency 70 | 1 test |
| Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | 2 tests |
| Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | 1 test |
| Immunodeficiency 75 | 3 tests |
| Immunodeficiency 78 with autoimmunity and developmental delay | 2 tests |
| Immunodeficiency 95 | 8 tests |
| Immunodeficiency 96 | 1 test |
| Immunodeficiency due to CD25 deficiency | 4 tests |
| Immunodeficiency due to MASP-2 deficiency | 2 tests |
| Immunodeficiency due to ficolin3 deficiency | 2 tests |
| Immunodeficiency, common variable, 1 | 3 tests |
| Immunodeficiency, common variable, 10 | 3 tests |
| Immunodeficiency, common variable, 12 | 3 tests |
| Immunodeficiency, common variable, 2 | 1 test |
| Immunodeficiency, common variable, 3 | 3 tests |
| Immunodeficiency, common variable, 4 | 2 tests |
| Immunodeficiency, common variable, 5 | 3 tests |
| Immunodeficiency, common variable, 6 | 3 tests |
| Immunodeficiency, common variable, 7 | 1 test |
| Immunodeficiency, developmental delay, and hypohomocysteinemia | 5 tests |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 2 tests |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 5 tests |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 2 tests |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | 2 tests |
| Immunoglobulin A deficiency 2 | 3 tests |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 5 tests |
| Immunoskeletal dysplasia with neurodevelopmental abnormalities | 2 tests |
| Inborn glycerol kinase deficiency | 6 tests |
| Inclusion body myopathy and brain white matter abnormalities | 3 tests |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 test |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 3 tests |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | 1 test |
| Incontinentia pigmenti syndrome | 1 test |
| Infantile GM1 gangliosidosis | 1 test |
| Infantile cerebellar-retinal degeneration | 7 tests |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 6 tests |
| Infantile convulsions and choreoathetosis | 1 test |
| Infantile cortical hyperostosis | 1 test |
| Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | 7 tests |
| Infantile hypophosphatasia | 1 test |
| Infantile liver failure syndrome 2 | 10 tests |
| Infantile nephronophthisis | 7 tests |
| Infantile neuroaxonal dystrophy | 8 tests |
| Infantile onset spinocerebellar ataxia | 12 tests |
| Infantile-onset X-linked spinal muscular atrophy | 5 tests |
| Infantile-onset generalized dyskinesia with orofacial involvement | 1 test |
| Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression | 1 test |
| Infantile-onset periodic fever-panniculitis-dermatosis syndrome | 1 test |
| Infertility associated with multi-tailed spermatozoa and excessive DNA | 2 tests |
| Inflammatory bowel disease 1 | 2 tests |
| Inflammatory bowel disease 13 | 2 tests |
| Inflammatory bowel disease 25 | 1 test |
| Inflammatory bowel disease 28 | 2 tests |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 6 tests |
| Inflammatory skin and bowel disease, neonatal, 2 | 1 test |
| Inherited Creutzfeldt-Jakob disease | 2 tests |
| Inherited susceptibility to asthma | 1 test |
| Inosine triphosphatase deficiency | 3 tests |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 5 tests |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 1 test |
| Intellectual developmental disorder 59 | 3 tests |
| Intellectual developmental disorder 60 with seizures | 4 tests |
| Intellectual developmental disorder 61 | 3 tests |
| Intellectual developmental disorder 62 | 2 tests |
| Intellectual developmental disorder with autism and macrocephaly | 2 tests |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 1 test |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 tests |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 3 tests |
| Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | 1 test |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 test |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 3 tests |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 2 tests |
| Intellectual developmental disorder with severe speech and ambulation defects | 3 tests |
| Intellectual developmental disorder, autosomal dominant 64 | 3 tests |
| Intellectual developmental disorder, autosomal dominant 65 | 3 tests |
| Intellectual developmental disorder, autosomal dominant 67 | 2 tests |
| Intellectual developmental disorder, autosomal dominant 68 | 1 test |
| Intellectual developmental disorder, autosomal dominant 69 | 1 test |
| Intellectual developmental disorder, autosomal recessive 67 | 3 tests |
| Intellectual developmental disorder, autosomal recessive 70 | 1 test |
| Intellectual developmental disorder, autosomal recessive 76 | 2 tests |
| Intellectual developmental disorder, autosomal recessive 77 | 1 test |
| Intellectual disability and myopathy syndrome | 1 test |
| Intellectual disability, FRA12A type | 3 tests |
| Intellectual disability, X-linked 1 | 4 tests |
| Intellectual disability, X-linked 102 | 3 tests |
| Intellectual disability, X-linked 104 | 3 tests |
| Intellectual disability, X-linked 19 | 6 tests |
| Intellectual disability, X-linked 21 | 3 tests |
| Intellectual disability, X-linked 30 | 3 tests |
| Intellectual disability, X-linked 41 | 3 tests |
| Intellectual disability, X-linked 49 | 4 tests |
| Intellectual disability, X-linked 50 | 1 test |
| Intellectual disability, X-linked 58 | 3 tests |
| Intellectual disability, X-linked 63 | 4 tests |
| Intellectual disability, X-linked 72 | 1 test |
| Intellectual disability, X-linked 9 | 3 tests |
| Intellectual disability, X-linked 90 | 1 test |
| Intellectual disability, X-linked 93 | 3 tests |
| Intellectual disability, X-linked 96 | 3 tests |
| Intellectual disability, X-linked 97 | 4 tests |
| Intellectual disability, X-linked 99 | 1 test |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 3 tests |
| Intellectual disability, X-linked syndromic, Turner type | 5 tests |
| Intellectual disability, X-linked, syndromic 33 | 1 test |
| Intellectual disability, X-linked, syndromic, 35 | 5 tests |
| Intellectual disability, X-linked, syndromic, Bain type | 3 tests |
| Intellectual disability, X-linked, syndromic, Houge type | 3 tests |
| Intellectual disability, X-linked, with or without seizures, arx-related | 1 test |
| Intellectual disability, X-linked, with panhypopituitarism | 5 tests |
| Intellectual disability, anterior maxillary protrusion, and strabismus | 2 tests |
| Intellectual disability, autosomal dominant 1 | 4 tests |
| Intellectual disability, autosomal dominant 11 | 3 tests |
| Intellectual disability, autosomal dominant 13 | 5 tests |
| Intellectual disability, autosomal dominant 14 | 4 tests |
| Intellectual disability, autosomal dominant 15 | 1 test |
| Intellectual disability, autosomal dominant 16 | 1 test |
| Intellectual disability, autosomal dominant 20 | 5 tests |
| Intellectual disability, autosomal dominant 22 | 3 tests |
| Intellectual disability, autosomal dominant 24 | 3 tests |
| Intellectual disability, autosomal dominant 27 | 5 tests |
| Intellectual disability, autosomal dominant 29 | 4 tests |
| Intellectual disability, autosomal dominant 3 | 3 tests |
| Intellectual disability, autosomal dominant 30 | 3 tests |
| Intellectual disability, autosomal dominant 33 | 3 tests |
| Intellectual disability, autosomal dominant 34 | 2 tests |
| Intellectual disability, autosomal dominant 38 | 1 test |
| Intellectual disability, autosomal dominant 39 | 4 tests |
| Intellectual disability, autosomal dominant 40 | 3 tests |
| Intellectual disability, autosomal dominant 41 | 2 tests |
| Intellectual disability, autosomal dominant 42 | 3 tests |
| Intellectual disability, autosomal dominant 43 | 3 tests |
| Intellectual disability, autosomal dominant 45 | 4 tests |
| Intellectual disability, autosomal dominant 46 | 2 tests |
| Intellectual disability, autosomal dominant 47 | 3 tests |
| Intellectual disability, autosomal dominant 48 | 4 tests |
| Intellectual disability, autosomal dominant 5 | 4 tests |
| Intellectual disability, autosomal dominant 50 | 3 tests |
| Intellectual disability, autosomal dominant 51 | 3 tests |
| Intellectual disability, autosomal dominant 52 | 3 tests |
| Intellectual disability, autosomal dominant 53 | 3 tests |
| Intellectual disability, autosomal dominant 54 | 3 tests |
| Intellectual disability, autosomal dominant 55, with seizures | 4 tests |
| Intellectual disability, autosomal dominant 56 | 4 tests |
| Intellectual disability, autosomal dominant 57 | 3 tests |
| Intellectual disability, autosomal dominant 58 | 2 tests |
| Intellectual disability, autosomal dominant 6 | 1 test |
| Intellectual disability, autosomal dominant 8 | 1 test |
| Intellectual disability, autosomal dominant 9 | 1 test |
| Intellectual disability, autosomal recessive 1 | 3 tests |
| Intellectual disability, autosomal recessive 12 | 5 tests |
| Intellectual disability, autosomal recessive 13 | 5 tests |
| Intellectual disability, autosomal recessive 14 | 3 tests |
| Intellectual disability, autosomal recessive 18 | 3 tests |
| Intellectual disability, autosomal recessive 2 | 4 tests |
| Intellectual disability, autosomal recessive 27 | 3 tests |
| Intellectual disability, autosomal recessive 3 | 3 tests |
| Intellectual disability, autosomal recessive 34 | 3 tests |
| Intellectual disability, autosomal recessive 42 | 8 tests |
| Intellectual disability, autosomal recessive 43 | 3 tests |
| Intellectual disability, autosomal recessive 44 | 3 tests |
| Intellectual disability, autosomal recessive 46 | 3 tests |
| Intellectual disability, autosomal recessive 47 | 1 test |
| Intellectual disability, autosomal recessive 5 | 4 tests |
| Intellectual disability, autosomal recessive 50 | 3 tests |
| Intellectual disability, autosomal recessive 51 | 3 tests |
| Intellectual disability, autosomal recessive 52 | 3 tests |
| Intellectual disability, autosomal recessive 53 | 3 tests |
| Intellectual disability, autosomal recessive 54 | 3 tests |
| Intellectual disability, autosomal recessive 56 | 3 tests |
| Intellectual disability, autosomal recessive 57 | 3 tests |
| Intellectual disability, autosomal recessive 58 | 3 tests |
| Intellectual disability, autosomal recessive 59 | 3 tests |
| Intellectual disability, autosomal recessive 6 | 2 tests |
| Intellectual disability, autosomal recessive 60 | 3 tests |
| Intellectual disability, autosomal recessive 61 | 3 tests |
| Intellectual disability, autosomal recessive 63 | 1 test |
| Intellectual disability, autosomal recessive 65 | 3 tests |
| Intellectual disability, autosomal recessive 66 | 3 tests |
| Intellectual disability, autosomal recessive 7 | 6 tests |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 4 tests |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 3 tests |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 3 tests |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 4 tests |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 test |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 4 tests |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 5 tests |
| Intellectual disability-strabismus syndrome | 3 tests |
| Interstitial lung disease 2 | 2 tests |
| Interstitial lung disease due to ABCA3 deficiency | 3 tests |
| Intervertebral disc disorder | 1 test |
| Intestinal hypomagnesemia 1 | 4 tests |
| Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | 1 test |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 1 test |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 1 test |
| Iodotyrosine deiodination defect | 2 tests |
| Iodotyrosyl coupling defect | 1 test |
| Irido-corneo-trabecular dysgenesis | 1 test |
| Iron-refractory iron deficiency anemia | 2 tests |
| Ischemic stroke | 2 tests |
| Isolated congenital digital clubbing | 1 test |
| Isolated congenital megalocornea | 1 test |
| Isolated cryptophthalmia | 6 tests |
| Isolated focal cortical dysplasia type II | 6 tests |
| Isolated focal non-epidermolytic palmoplantar keratoderma | 1 test |
| Isolated growth hormone deficiency, type 4 | 2 tests |
| Isolated hyperchlorhidrosis | 2 tests |
| Isolated lutropin deficiency | 4 tests |
| Isolated microphthalmia 2 | 1 test |
| Isolated microphthalmia 3 | 2 tests |
| Isolated microphthalmia 5 | 1 test |
| Isolated microphthalmia 6 | 3 tests |
| Isolated microphthalmia 7 | 1 test |
| Isolated microphthalmia 8 | 3 tests |
| Isolated neonatal sclerosing cholangitis | 4 tests |
| Isolated optic nerve hypoplasia | 1 test |
| Isolated thyroid-stimulating hormone deficiency | 3 tests |
| Isovaleryl-CoA dehydrogenase deficiency | 8 tests |
| Jaberi-Elahi syndrome | 3 tests |
| Jackson-Weiss syndrome | 10 tests |
| Jalili syndrome | 1 test |
| Jawad syndrome | 9 tests |
| Jervell and Lange-Nielsen syndrome 2 | 1 test |
| Johanson-Blizzard syndrome | 7 tests |
| Joubert syndrome 1 | 10 tests |
| Joubert syndrome 10 | 1 test |
| Joubert syndrome 13 | 9 tests |
| Joubert syndrome 14 | 8 tests |
| Joubert syndrome 15 | 10 tests |
| Joubert syndrome 16 | 9 tests |
| Joubert syndrome 17 | 7 tests |
| Joubert syndrome 18 | 1 test |
| Joubert syndrome 2 | 10 tests |
| Joubert syndrome 21 | 9 tests |
| Joubert syndrome 22 | 5 tests |
| Joubert syndrome 24 | 9 tests |
| Joubert syndrome 25 | 2 tests |
| Joubert syndrome 26 | 1 test |
| Joubert syndrome 27 | 9 tests |
| Joubert syndrome 28 | 10 tests |
| Joubert syndrome 3 | 9 tests |
| Joubert syndrome 30 | 3 tests |
| Joubert syndrome 31 | 1 test |
| Joubert syndrome 32 | 4 tests |
| Joubert syndrome 33 | 4 tests |
| Joubert syndrome 35 | 4 tests |
| Joubert syndrome 5 | 9 tests |
| Joubert syndrome 6 | 1 test |
| Joubert syndrome 8 | 11 tests |
| Joubert syndrome 9 | 1 test |
| Joubert syndrome with renal defect | 2 tests |
| Junctional epidermolysis bullosa gravis of Herlitz | 6 tests |
| Junctional epidermolysis bullosa with pyloric atresia | 5 tests |
| Junctional epidermolysis bullosa, non-Herlitz type | 1 test |
| Juvenile arthritis due to defect in LACC1 | 1 test |
| Juvenile cataract-microcornea-renal glucosuria syndrome | 2 tests |
| Juvenile hyaline fibromatosis | 1 test |
| Juvenile myelomonocytic leukemia | 11 tests |
| Juvenile onset Parkinson disease 19A | 3 tests |
| Juvenile polyposis syndrome | 14 tests |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 6 tests |
| Juvenile primary lateral sclerosis | 6 tests |
| Juvenile retinoschisis | 3 tests |
| Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | 2 tests |
| KBG syndrome | 3 tests |
| KINSSHIP syndrome | 1 test |
| Kabuki syndrome 1 | 8 tests |
| Kabuki syndrome 2 | 8 tests |
| Kahrizi syndrome | 6 tests |
| Kartagener syndrome | 10 tests |
| Karyomegalic interstitial nephritis | 5 tests |
| Keipert syndrome | 3 tests |
| Kell blood group system | 1 test |
| Kennedy disease | 2 tests |
| Keratitis fugax hereditaria | 1 test |
| Keratoderma with scleroatrophy of the extremities | 1 test |
| Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | 1 test |
| Keratosis follicularis | 2 tests |
| Keratosis follicularis spinulosa decalvans, X-linked | 1 test |
| Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | 3 tests |
| Keratosis palmoplantaris striata 2 | 1 test |
| Keratosis palmoplantaris striata 3 | 2 tests |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | 7 tests |
| Keutel syndrome | 6 tests |
| Kindler syndrome | 2 tests |
| Kleefstra syndrome 1 | 4 tests |
| Kleefstra syndrome 2 | 5 tests |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 4 tests |
| Klippel-Feil syndrome 2, autosomal recessive | 2 tests |
| Klippel-Feil syndrome 3, autosomal dominant | 1 test |
| Kniest dysplasia | 1 test |
| Knobloch syndrome 1 | 1 test |
| Knuckle pads, deafness AND leukonychia syndrome | 1 test |
| Koolen-de Vries syndrome | 2 tests |
| Kostmann syndrome | 7 tests |
| Krabbe disease due to saposin A deficiency | 1 test |
| Kufor-Rakeb syndrome | 8 tests |
| Kugelberg-Welander disease | 3 tests |
| Kuru, susceptibility to | 2 tests |
| Kury-Isidor syndrome | 1 test |
| L-2-hydroxyglutaric aciduria | 5 tests |
| L-ferritin deficiency | 10 tests |
| LEOPARD syndrome 1 | 1 test |
| LEOPARD syndrome 2 | 1 test |
| LEOPARD syndrome 3 | 5 tests |
| LIPE-related familial partial lipodystrophy | 3 tests |
| LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS | 1 test |
| Lafora disease | 5 tests |
| Lamb-Shaffer syndrome | 3 tests |
| Landau-Kleffner syndrome | 4 tests |
| Langer mesomelic dysplasia syndrome | 2 tests |
| Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | 4 tests |
| Large congenital melanocytic nevus | 4 tests |
| Laron-type isolated somatotropin defect | 1 test |
| Larsen syndrome | 1 test |
| Larsen-like syndrome, B3GAT3 type | 4 tests |
| Laryngo-onycho-cutaneous syndrome | 1 test |
| Late-onset retinal degeneration | 1 test |
| Lateral meningocele syndrome | 9 tests |
| Lathosterolosis | 3 tests |
| Laurence-Moon syndrome | 11 tests |
| Lazy leukocyte syndrome | 1 test |
| Leber congenital amaurosis 1 | 1 test |
| Leber congenital amaurosis 10 | 5 tests |
| Leber congenital amaurosis 11 | 1 test |
| Leber congenital amaurosis 12 | 4 tests |
| Leber congenital amaurosis 13 | 5 tests |
| Leber congenital amaurosis 14 | 4 tests |
| Leber congenital amaurosis 15 | 4 tests |
| Leber congenital amaurosis 16 | 4 tests |
| Leber congenital amaurosis 2 | 1 test |
| Leber congenital amaurosis 3 | 4 tests |
| Leber congenital amaurosis 4 | 4 tests |
| Leber congenital amaurosis 5 | 5 tests |
| Leber congenital amaurosis 6 | 4 tests |
| Leber congenital amaurosis 7 | 1 test |
| Leber congenital amaurosis 8 | 1 test |
| Leber congenital amaurosis 9 | 4 tests |
| Left ventricular noncompaction 1 | 2 tests |
| Left ventricular noncompaction 10 | 4 tests |
| Left ventricular noncompaction 7 | 4 tests |
| Left ventricular noncompaction 8 | 3 tests |
| Legg-Calve-Perthes disease | 1 test |
| Legius syndrome | 3 tests |
| Lenz-Majewski hyperostosis syndrome | 3 tests |
| Leprechaunism syndrome | 2 tests |
| Leri-Weill dyschondrosteosis | 2 tests |
| Lesch-Nyhan syndrome | 5 tests |
| Lessel-kubisch syndrome | 1 test |
| Lethal Kniest-like syndrome | 7 tests |
| Lethal acantholytic epidermolysis bullosa | 1 test |
| Lethal arthrogryposis-anterior horn cell disease syndrome | 1 test |
| Lethal congenital contracture syndrome 1 | 5 tests |
| Lethal congenital contracture syndrome 11 | 2 tests |
| Lethal congenital contracture syndrome 3 | 3 tests |
| Lethal congenital contracture syndrome 4 | 1 test |
| Lethal congenital contracture syndrome 7 | 1 test |
| Lethal congenital contracture syndrome 9 | 4 tests |
| Lethal congenital glycogen storage disease of heart | 1 test |
| Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | 1 test |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 3 tests |
| Lethal multiple pterygium syndrome | 8 tests |
| Lethal occipital encephalocele-skeletal dysplasia syndrome | 2 tests |
| Lethal osteosclerotic bone dysplasia | 4 tests |
| Lethal polymalformative syndrome, Boissel type | 2 tests |
| Lethal tight skin contracture syndrome | 1 test |
| Leucine-induced hypoglycemia | 1 test |
| Leukocyte adhesion deficiency 1 | 2 tests |
| Leukocyte adhesion deficiency 3 | 4 tests |
| Leukocyte adhesion deficiency type II | 6 tests |
| Leukodystrophy and acquired microcephaly with or without dystonia; | 3 tests |
| Leukodystrophy, hypomyelinating, 14 | 4 tests |
| Leukodystrophy, hypomyelinating, 15 | 4 tests |
| Leukodystrophy, hypomyelinating, 16 | 4 tests |
| Leukodystrophy, hypomyelinating, 17 | 4 tests |
| Leukodystrophy, hypomyelinating, 18 | 3 tests |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 8 tests |
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 5 tests |
| Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | 4 tests |
| Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 7 tests |
| Leukoencephalopathy, hereditary diffuse, with spheroids 2 | 5 tests |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 1 test |
| Leukoencephalopathy, progressive, with ovarian failure | 8 tests |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 1 test |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 7 tests |
| Levy-Hollister syndrome | 10 tests |
| Lewy body dementia | 5 tests |
| Leydig cell agenesis | 3 tests |
| Li-Fraumeni syndrome 1 | 8 tests |
| Li-Fraumeni syndrome 2 | 7 tests |
| Li-Ghorbani-Weisz-Hubshman syndrome | 3 tests |
| Liang-Wang syndrome | 1 test |
| Liddle syndrome 1 | 4 tests |
| Liddle syndrome 2 | 1 test |
| Liddle syndrome 3 | 1 test |
| Limb-girdle muscular dystrophy due to POMK deficiency | 7 tests |
| Limb-mammary syndrome | 1 test |
| Linear nevus sebaceous syndrome | 4 tests |
| Linear skin defects with multiple congenital anomalies 1 | 8 tests |
| Linear skin defects with multiple congenital anomalies 2 | 5 tests |
| Linear skin defects with multiple congenital anomalies 3 | 1 test |
| Lipase deficiency, combined | 4 tests |
| Lipid proteinosis | 1 test |
| Lipoic acid synthetase deficiency | 8 tests |
| Lipoprotein glomerulopathy | 1 test |
| Lipoyl transferase 1 deficiency | 8 tests |
| Lissencephaly 4 | 1 test |
| Lissencephaly 6 with microcephaly | 4 tests |
| Lissencephaly 8 | 4 tests |
| Lissencephaly 9 with complex brainstem malformation | 4 tests |
| Lissencephaly due to LIS1 mutation | 6 tests |
| Lissencephaly due to TUBA1A mutation | 4 tests |
| Lissencephaly type 1 due to doublecortin gene mutation | 5 tests |
| Loeys-Dietz syndrome 2 | 1 test |
| Loeys-Dietz syndrome 4 | 3 tests |
| Long QT syndrome 1 | 3 tests |
| Long QT syndrome 10 | 2 tests |
| Long QT syndrome 11 | 3 tests |
| Long QT syndrome 12 | 4 tests |
| Long QT syndrome 13 | 4 tests |
| Long QT syndrome 15 | 2 tests |
| Long QT syndrome 16 | 2 tests |
| Long QT syndrome 2 | 2 tests |
| Long QT syndrome 3 | 1 test |
| Long QT syndrome 5 | 4 tests |
| Long QT syndrome 6 | 2 tests |
| Long QT syndrome 9 | 1 test |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 1 test |
| Long qt syndrome 8 | 1 test |
| Lopes-Maciel-Rodan syndrome | 1 test |
| Loricrin keratoderma | 2 tests |
| Low phospholipid associated cholelithiasis | 1 test |
| Lowe syndrome | 1 test |
| Lower motor neuron syndrome with late-adult onset | 3 tests |
| Lower urinary tract obstruction, congenital | 5 tests |
| Lucey-Driscoll syndrome | 1 test |
| Lung cancer | 18 tests |
| Lung disease, immunodeficiency, and chromosome breakage syndrome; | 4 tests |
| Luscan-Lumish syndrome | 5 tests |
| Lymphangiomyomatosis | 7 tests |
| Lymphatic malformation 3 | 6 tests |
| Lymphatic malformation 6 | 1 test |
| Lymphatic malformation 7 | 1 test |
| Lymphoma, non-Hodgkin, familial | 7 tests |
| Lymphoproliferative syndrome 1 | 4 tests |
| Lymphoproliferative syndrome 2 | 2 tests |
| Lynch syndrome | 3 tests |
| Lynch syndrome 1 | 7 tests |
| Lynch syndrome 4 | 7 tests |
| Lynch syndrome 5 | 7 tests |
| Lynch syndrome 8 | 4 tests |
| Lysinuric protein intolerance | 10 tests |
| Lysosomal acid lipase deficiency | 7 tests |
| MASA syndrome | 1 test |
| MASS syndrome | 2 tests |
| MEDNIK syndrome | 4 tests |
| MEGF10-related myopathy | 5 tests |
| MEGF8-related Carpenter syndrome | 3 tests |
| MEHMO syndrome | 6 tests |
| MEND syndrome | 1 test |
| METHEMOGLOBINEMIA, BETA TYPE | 2 tests |
| MGAT2-congenital disorder of glycosylation | 6 tests |
| MHC class I deficiency | 4 tests |
| MHC class II deficiency | 5 tests |
| MIRAGE syndrome | 1 test |
| MOGS-congenital disorder of glycosylation | 6 tests |
| MPDU1-congenital disorder of glycosylation | 5 tests |
| MPI-congenital disorder of glycosylation | 7 tests |
| MYH7-related skeletal myopathy | 4 tests |
| MYPN-related myopathy | 4 tests |
| Macrocephaly, acquired, with impaired intellectual development | 3 tests |
| Macrocephaly-autism syndrome | 2 tests |
| Macrocephaly-developmental delay syndrome | 3 tests |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 4 tests |
| Macroglobulinemia, Waldenstrom, 1 | 2 tests |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 9 tests |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 3 tests |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 3 tests |
| Macular degeneration, X-linked atrophic | 1 test |
| Macular degeneration, age-related, 3 | 1 test |
| Macular degeneration, early-onset | 6 tests |
| Macular dystrophy with central cone involvement | 8 tests |
| Maffucci syndrome | 2 tests |
| Majeed syndrome | 3 tests |
| Malan overgrowth syndrome | 2 tests |
| Malaria, susceptibility to | 9 tests |
| Male infertility due to globozoospermia | 1 test |
| Maleylacetoacetate isomerase deficiency | 1 test |
| Maligant granulosa cell tumor of ovary | 1 test |
| Malignant hyperthermia, susceptibility to, 5 | 1 test |
| Malignant tumor of esophagus | 7 tests |
| Malignant tumor of prostate | 23 tests |
| Malignant tumor of urinary bladder | 6 tests |
| Mandibular hypoplasia-deafness-progeroid syndrome | 3 tests |
| Mandibuloacral dysplasia with type A lipodystrophy | 1 test |
| Mandibuloacral dysplasia with type B lipodystrophy | 3 tests |
| Mandibulofacial dysostosis-microcephaly syndrome | 4 tests |
| Mannose-binding lectin deficiency | 2 tests |
| Maple syrup urine disease | 12 tests |
| Maple syrup urine disease, mild variant | 1 test |
| Marden-Walker syndrome | 1 test |
| Marfan syndrome | 2 tests |
| Marinesco-Sjögren syndrome | 8 tests |
| Marshall syndrome | 2 tests |
| Marshall-Smith syndrome | 2 tests |
| Martsolf syndrome 1 | 9 tests |
| Martsolf syndrome 2 | 1 test |
| Mast syndrome | 5 tests |
| Matthew-Wood syndrome | 9 tests |
| Maturity-onset diabetes of the young type 1 | 6 tests |
| Maturity-onset diabetes of the young type 10 | 1 test |
| Maturity-onset diabetes of the young type 11 | 3 tests |
| Maturity-onset diabetes of the young type 13 | 1 test |
| Maturity-onset diabetes of the young type 14 | 3 tests |
| Maturity-onset diabetes of the young type 2 | 6 tests |
| Maturity-onset diabetes of the young type 3 | 1 test |
| Maturity-onset diabetes of the young type 6 | 3 tests |
| Maturity-onset diabetes of the young type 7 | 3 tests |
| Maturity-onset diabetes of the young type 8 | 4 tests |
| Maturity-onset diabetes of the young type 9 | 1 test |
| McCune-Albright syndrome | 11 tests |
| McKusick-Kaufman syndrome | 1 test |
| McLeod neuroacanthocytosis syndrome | 4 tests |
| Meckel syndrome 13 | 1 test |
| Meckel syndrome 14 | 2 tests |
| Meckel syndrome, type 1 | 8 tests |
| Meckel syndrome, type 10 | 6 tests |
| Meckel syndrome, type 11 | 8 tests |
| Meckel syndrome, type 2 | 1 test |
| Meckel syndrome, type 3 | 1 test |
| Meckel syndrome, type 4 | 7 tests |
| Meckel syndrome, type 5 | 10 tests |
| Meckel syndrome, type 6 | 1 test |
| Meckel syndrome, type 8 | 1 test |
| Meckel syndrome, type 9 | 1 test |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 8 tests |
| Medulloblastoma | 23 tests |
| Meester-Loeys syndrome | 1 test |
| Megabladder, congenital | 3 tests |
| Megaconial type congenital muscular dystrophy | 4 tests |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 4 tests |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 4 tests |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 4 tests |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 9 tests |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | 7 tests |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 2 tests |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 2 tests |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 6 tests |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 10 tests |
| Meier-Gorlin syndrome 1 | 5 tests |
| Meier-Gorlin syndrome 2 | 2 tests |
| Meier-Gorlin syndrome 7 | 1 test |
| Melanoma and neural system tumor syndrome | 6 tests |
| Melanoma, cutaneous malignant, susceptibility to, 1 | 2 tests |
| Melanoma, cutaneous malignant, susceptibility to, 2 | 7 tests |
| Melanoma, cutaneous malignant, susceptibility to, 3 | 3 tests |
| Melanoma, cutaneous malignant, susceptibility to, 5 | 2 tests |
| Melanoma, cutaneous malignant, susceptibility to, 6 | 2 tests |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 3 tests |
| Melanoma, cutaneous malignant, susceptibility to, 9 | 2 tests |
| Melanoma, uveal, susceptibility to, 2 | 4 tests |
| Melanoma-pancreatic cancer syndrome | 6 tests |
| Melnick-Needles syndrome | 1 test |
| Melorheostosis | 6 tests |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | 2 tests |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 2 tests |
| Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | 2 tests |
| Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | 3 tests |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 7 tests |
| Menke-Hennekam syndrome 1 | 1 test |
| Menke-Hennekam syndrome 2 | 4 tests |
| Menkes kinky-hair syndrome | 1 test |
| Merosin deficient congenital muscular dystrophy | 1 test |
| Mesothelioma, malignant | 1 test |
| Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | 2 tests |
| Metabolic myopathy due to lactate transporter defect | 1 test |
| Metachondromatosis | 1 test |
| Metachromatic leukodystrophy | 9 tests |
| Metaphyseal anadysplasia 2 | 4 tests |
| Metaphyseal chondrodysplasia, Jansen type | 5 tests |
| Metaphyseal chondrodysplasia, Schmid type | 4 tests |
| Metaphyseal chondrodysplasia, Spahr type | 1 test |
| Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | 4 tests |
| Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | 4 tests |
| Metatropic dysplasia | 1 test |
| Methemoglobinemia type 4 | 5 tests |
| Methemoglobinemia, alpha type | 2 tests |
| Methylcobalamin deficiency type cblE | 1 test |
| Methylcobalamin deficiency type cblG | 7 tests |
| Methylmalonate semialdehyde dehydrogenase deficiency | 4 tests |
| Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | 7 tests |
| Methylmalonic acidemia due to transcobalamin receptor defect | 5 tests |
| Methylmalonic acidemia with homocystinuria, type cblJ | 5 tests |
| Methylmalonic acidemia with homocystinuria, type cblX | 7 tests |
| Methylmalonic aciduria and homocystinuria type cblD | 9 tests |
| Methylmalonic aciduria and homocystinuria type cblF | 6 tests |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 11 tests |
| Methylmalonic aciduria, cblA type | 10 tests |
| Methylmalonic aciduria, cblB type | 10 tests |
| Mevalonic aciduria | 1 test |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 1 test |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 5 tests |
| Microcephalic osteodysplastic primordial dwarfism type II | 7 tests |
| Microcephalic primordial dwarfism due to RTTN deficiency | 4 tests |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 5 tests |
| Microcephalic primordial dwarfism, Alazami type | 1 test |
| Microcephaly 1, primary, autosomal recessive | 5 tests |
| Microcephaly 12, primary, autosomal recessive | 1 test |
| Microcephaly 14, primary, autosomal recessive | 4 tests |
| Microcephaly 15, primary, autosomal recessive | 4 tests |
| Microcephaly 16, primary, autosomal recessive | 3 tests |
| Microcephaly 17, primary, autosomal recessive | 4 tests |
| Microcephaly 18, primary, autosomal dominant | 3 tests |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 5 tests |
| Microcephaly 20, primary, autosomal recessive | 6 tests |
| Microcephaly 22, primary, autosomal recessive | 4 tests |
| Microcephaly 26, primary, autosomal dominant | 6 tests |
| Microcephaly 3, primary, autosomal recessive | 5 tests |
| Microcephaly 4, primary, autosomal recessive | 4 tests |
| Microcephaly 5, primary, autosomal recessive | 5 tests |
| Microcephaly 6, primary, autosomal recessive | 8 tests |
| Microcephaly 7, primary, autosomal recessive | 5 tests |
| Microcephaly 8, primary, autosomal recessive | 4 tests |
| Microcephaly 9, primary, autosomal recessive | 1 test |
| Microcephaly and chorioretinopathy 1 | 4 tests |
| Microcephaly and chorioretinopathy 2 | 4 tests |
| Microcephaly and chorioretinopathy 3 | 4 tests |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 5 tests |
| Microcephaly, epilepsy, and diabetes syndrome 1 | 8 tests |
| Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | 2 tests |
| Microcephaly, growth deficiency, seizures, and brain malformations | 1 test |
| Microcephaly, growth restriction, and increased sister chromatid exchange 2 | 1 test |
| Microcephaly, normal intelligence and immunodeficiency | 9 tests |
| Microcephaly, seizures, and developmental delay | 1 test |
| Microcephaly, short stature, and impaired glucose metabolism 1 | 6 tests |
| Microcephaly, short stature, and impaired glucose metabolism 2 | 2 tests |
| Microcephaly-capillary malformation syndrome | 5 tests |
| Microcephaly-congenital cataract-psoriasiform dermatitis syndrome | 5 tests |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 4 tests |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 3 tests |
| Microcornea-myopic chorioretinal atrophy | 2 tests |
| Microphthalmia with brain and digit anomalies | 1 test |
| Microphthalmia with limb anomalies | 3 tests |
| Microphthalmia, isolated, with coloboma 10 | 1 test |
| Microphthalmia, isolated, with coloboma 3 | 3 tests |
| Microphthalmia, isolated, with coloboma 6 | 3 tests |
| Microphthalmia, isolated, with coloboma 7 | 1 test |
| Microphthalmia, isolated, with coloboma 9 | 3 tests |
| Microphthalmia, syndromic 1 | 5 tests |
| Microphthalmia, syndromic 12 | 4 tests |
| Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 1 test |
| Microvascular complications of diabetes, susceptibility to, 1 | 1 test |
| Microvascular complications of diabetes, susceptibility to, 4 | 1 test |
| Microvascular complications of diabetes, susceptibility to, 5 | 3 tests |
| Microvascular complications of diabetes, susceptibility to, 6 | 3 tests |
| Microvascular complications of diabetes, susceptibility to, 7 | 8 tests |
| Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 4 tests |
| Migraine with or without aura, susceptibility to, 1 | 1 test |
| Migraine, familial hemiplegic, 1 | 2 tests |
| Migraine, familial hemiplegic, 2 | 1 test |
| Migraine, familial hemiplegic, 3 | 2 tests |
| Miller Dieker syndrome | 3 tests |
| Miller syndrome | 4 tests |
| Mirror movements 1 | 2 tests |
| Mismatch repair cancer syndrome 1 | 7 tests |
| Mismatch repair cancer syndrome 2 | 9 tests |
| Mismatch repair cancer syndrome 3 | 9 tests |
| Mismatch repair cancer syndrome 4 | 10 tests |
| Mitchell syndrome | 7 tests |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 8 tests |
| Mitochondrial DNA depletion syndrome 1 | 8 tests |
| Mitochondrial DNA depletion syndrome 11 | 7 tests |
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | 1 test |
| Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 1 test |
| Mitochondrial DNA depletion syndrome 13 | 10 tests |
| Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 1 test |
| Mitochondrial DNA depletion syndrome 16 (hepatic type) | 1 test |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 12 tests |
| Mitochondrial DNA depletion syndrome 4b | 1 test |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 13 tests |
| Mitochondrial DNA depletion syndrome 8a | 2 tests |
| Mitochondrial DNA depletion syndrome 9 | 9 tests |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 10 tests |
| Mitochondrial complex 1 deficiency, nuclear type 10 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 11 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 12 | 9 tests |
| Mitochondrial complex 1 deficiency, nuclear type 13 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 14 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 15 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 16 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 17 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 18 | 7 tests |
| Mitochondrial complex 1 deficiency, nuclear type 19 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 2 | 7 tests |
| Mitochondrial complex 1 deficiency, nuclear type 21 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 22 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 23 | 7 tests |
| Mitochondrial complex 1 deficiency, nuclear type 24 | 4 tests |
| Mitochondrial complex 1 deficiency, nuclear type 25 | 7 tests |
| Mitochondrial complex 1 deficiency, nuclear type 26 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 27 | 7 tests |
| Mitochondrial complex 1 deficiency, nuclear type 29 | 2 tests |
| Mitochondrial complex 1 deficiency, nuclear type 3 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 30 | 3 tests |
| Mitochondrial complex 1 deficiency, nuclear type 31 | 3 tests |
| Mitochondrial complex 1 deficiency, nuclear type 32 | 3 tests |
| Mitochondrial complex 1 deficiency, nuclear type 33 | 3 tests |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 5 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 6 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 7 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 8 | 8 tests |
| Mitochondrial complex 1 deficiency, nuclear type 9 | 8 tests |
| Mitochondrial complex 2 deficiency, nuclear type 2 | 1 test |
| Mitochondrial complex 2 deficiency, nuclear type 3 | 1 test |
| Mitochondrial complex 2 deficiency, nuclear type 4 | 1 test |
| Mitochondrial complex 4 deficiency, nuclear type 10 | 3 tests |
| Mitochondrial complex 4 deficiency, nuclear type 11 | 8 tests |
| Mitochondrial complex 4 deficiency, nuclear type 12 | 8 tests |
| Mitochondrial complex 4 deficiency, nuclear type 17 | 7 tests |
| Mitochondrial complex 4 deficiency, nuclear type 3 | 7 tests |
| Mitochondrial complex 4 deficiency, nuclear type 4 | 8 tests |
| Mitochondrial complex 4 deficiency, nuclear type 7 | 8 tests |
| Mitochondrial complex 4 deficiency, nuclear type 8 | 8 tests |
| Mitochondrial complex I deficiency, nuclear type 1 | 8 tests |
| Mitochondrial complex II deficiency, nuclear type 1 | 8 tests |
| Mitochondrial complex III deficiency nuclear type 1 | 13 tests |
| Mitochondrial complex III deficiency nuclear type 2 | 6 tests |
| Mitochondrial complex III deficiency nuclear type 3 | 5 tests |
| Mitochondrial complex III deficiency nuclear type 4 | 7 tests |
| Mitochondrial complex III deficiency nuclear type 5 | 6 tests |
| Mitochondrial complex III deficiency nuclear type 6 | 4 tests |
| Mitochondrial complex III deficiency nuclear type 7 | 5 tests |
| Mitochondrial complex III deficiency nuclear type 8 | 7 tests |
| Mitochondrial complex IV deficiency, nuclear type 1 | 6 tests |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 10 tests |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 | 3 tests |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B | 1 test |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 6 tests |
| Mitochondrial disease | 1 test |
| Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) | 1 test |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 6 tests |
| Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | 8 tests |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 4 tests |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 3 tests |
| Mitochondrial pyruvate carrier deficiency | 6 tests |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 7 tests |
| Mitochondrial trifunctional protein deficiency | 10 tests |
| Mitral valve prolapse, myxomatous 2 | 2 tests |
| Miyoshi muscular dystrophy 1 | 5 tests |
| Miyoshi muscular dystrophy 3 | 7 tests |
| Monocytopenia with susceptibility to infections | 5 tests |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 2 tests |
| Monosomy 7 myelodysplasia and leukemia syndrome 2 | 1 test |
| Mosaic variegated aneuploidy syndrome 1 | 1 test |
| Mosaic variegated aneuploidy syndrome 2 | 1 test |
| Mosaic variegated aneuploidy syndrome 3 | 1 test |
| Mowat-Wilson syndrome | 7 tests |
| Moyamoya disease 5 | 1 test |
| Moyamoya disease with early-onset achalasia | 2 tests |
| Mucolipidosis type II | 7 tests |
| Mucolipidosis type IV | 6 tests |
| Mucopolysaccharidosis | 6 tests |
| Mucopolysaccharidosis type 6 | 5 tests |
| Mucopolysaccharidosis type 7 | 5 tests |
| Mucopolysaccharidosis, MPS-I-H/S | 1 test |
| Mucopolysaccharidosis, MPS-I-S | 1 test |
| Mucopolysaccharidosis, MPS-II | 7 tests |
| Mucopolysaccharidosis, MPS-III-A | 6 tests |
| Mucopolysaccharidosis, MPS-III-B | 5 tests |
| Mucopolysaccharidosis, MPS-III-C | 1 test |
| Mucopolysaccharidosis, MPS-III-D | 6 tests |
| Mucopolysaccharidosis, MPS-IV-A | 5 tests |
| Mucopolysaccharidosis, MPS-IV-B | 1 test |
| Muenke syndrome | 1 test |
| Muir-Torré syndrome | 9 tests |
| Mulibrey nanism syndrome | 2 tests |
| Mullegama-Klein-Martinez syndrome | 1 test |
| Mullerian aplasia and hyperandrogenism | 3 tests |
| Multicentric carpo-tarsal osteolysis with or without nephropathy | 3 tests |
| Multicentric osteolysis nodulosis arthropathy spectrum | 1 test |
| Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | 3 tests |
| Multiple acyl-CoA dehydrogenase deficiency | 13 tests |
| Multiple benign circumferential skin creases on limbs 1 | 1 test |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 4 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 6 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 1 test |
| Multiple cutaneous and mucosal venous malformations | 2 tests |
| Multiple endocrine neoplasia type 2A | 5 tests |
| Multiple endocrine neoplasia type 2B | 5 tests |
| Multiple endocrine neoplasia type 4 | 3 tests |
| Multiple endocrine neoplasia, type 1 | 6 tests |
| Multiple epiphyseal dysplasia type 1 | 1 test |
| Multiple epiphyseal dysplasia type 4 | 1 test |
| Multiple epiphyseal dysplasia type 5 | 1 test |
| Multiple epiphyseal dysplasia, Al-Gazali type | 2 tests |
| Multiple mitochondrial dysfunctions syndrome 1 | 9 tests |
| Multiple mitochondrial dysfunctions syndrome 2 | 8 tests |
| Multiple mitochondrial dysfunctions syndrome 3 | 5 tests |
| Multiple mitochondrial dysfunctions syndrome 4 | 7 tests |
| Multiple mitochondrial dysfunctions syndrome 5 | 3 tests |
| Multiple mitochondrial dysfunctions syndrome 6 | 5 tests |
| Multiple myeloma | 2 tests |
| Multiple sclerosis, susceptibility to | 3 tests |
| Multiple sclerosis, susceptibility to, 5 | 2 tests |
| Multiple self-healing squamous epithelioma | 3 tests |
| Multiple sulfatase deficiency | 8 tests |
| Multiple synostoses syndrome 2 | 1 test |
| Multiple system atrophy 1, susceptibility to | 10 tests |
| Multisystemic smooth muscle dysfunction syndrome | 5 tests |
| Mungan syndrome | 3 tests |
| Muscle AMP deaminase deficiency | 6 tests |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 test |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 9 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 8 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 5 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 7 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | 9 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 6 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 6 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 6 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 | 6 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 8 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 1 test |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | 1 test |
| Muscular dystrophy-dystroglycanopathy type B6 | 1 test |
| Mutilating keratoderma | 1 test |
| Myasthenic syndrome, congenital, 1B, fast-channel | 1 test |
| Myasthenic syndrome, congenital, 22 | 4 tests |
| Myasthenic syndrome, congenital, 23, presynaptic | 4 tests |
| Myasthenic syndrome, congenital, 24, presynaptic | 4 tests |
| Myasthenic syndrome, congenital, 25, presynaptic | 1 test |
| Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | 1 test |
| Mycobacterium tuberculosis, susceptibility to | 2 tests |
| Myelodysplastic syndrome | 11 tests |
| Myelodysplastic syndrome associated with isolated del(5q) | 3 tests |
| Myeloproliferative disorder, chronic, with eosinophilia | 3 tests |
| Myhre syndrome | 2 tests |
| Myocardial infarction, susceptibility to | 6 tests |
| Myoclonic dystonia 11 | 3 tests |
| Myoclonic dystonia 26 | 1 test |
| Myoclonic epilepsy, juvenile, susceptibility to, 1 | 3 tests |
| Myoclonic-astatic epilepsy | 5 tests |
| Myoclonus, familial, 2 | 1 test |
| Myoclonus, intractable, neonatal | 1 test |
| Myofibrillar myopathy 2 | 1 test |
| Myofibrillar myopathy 3 | 5 tests |
| Myofibrillar myopathy 4 | 1 test |
| Myofibrillar myopathy 6 | 5 tests |
| Myofibrillar myopathy 7 | 3 tests |
| Myofibrillar myopathy 8 | 3 tests |
| Myofibromatosis, infantile, 1 | 3 tests |
| Myofibromatosis, infantile, 2 | 3 tests |
| Myoglobinuria, acute recurrent, autosomal recessive | 5 tests |
| Myopathy due to calsequestrin and SERCA1 protein overload | 3 tests |
| Myopathy with abnormal lipid metabolism | 7 tests |
| Myopathy, centronuclear, 2 | 5 tests |
| Myopathy, centronuclear, 5 | 4 tests |
| Myopathy, congenital proximal, with minicore lesions | 1 test |
| Myopathy, congenital, progressive, with scoliosis | 1 test |
| Myopathy, congenital, with respiratory insufficiency and bone fractures | 1 test |
| Myopathy, congenital, with structured cores and z-line abnormalities | 1 test |
| Myopathy, congenital, with tremor | 4 tests |
| Myopathy, distal, 6, adult-onset, autosomal dominant | 2 tests |
| Myopathy, distal, 7, adult-onset, X-linked | 1 test |
| Myopathy, epilepsy, and progressive cerebral atrophy | 4 tests |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 4 tests |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 6 tests |
| Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | 1 test |
| Myopathy, myofibrillar, 9, with early respiratory failure | 5 tests |
| Myopathy, myosin storage, autosomal recessive | 1 test |
| Myopathy, proximal, and ophthalmoplegia | 4 tests |
| Myopathy, reducing body, X-linked, childhood-onset | 2 tests |
| Myopathy, reducing body, X-linked, early-onset, severe | 4 tests |
| Myopathy, tubular aggregate, 1 | 1 test |
| Myopia 25, autosomal dominant | 3 tests |
| Myopia 6 | 1 test |
| Myopia, high, with cataract and vitreoretinal degeneration | 1 test |
| Myosclerosis | 5 tests |
| Myosin storage myopathy | 1 test |
| Myostatin-related muscle hypertrophy | 1 test |
| Myotonic dystrophy type 2 | 2 tests |
| NAD(P)HX dehydratase deficiency | 3 tests |
| NDE1-related microhydranencephaly | 5 tests |
| NEK9-related lethal skeletal dysplasia | 2 tests |
| NPHP3-related Meckel-like syndrome | 1 test |
| Naegeli-Franceschetti-Jadassohn syndrome | 1 test |
| Nager syndrome | 2 tests |
| Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | 1 test |
| Nail-patella syndrome | 1 test |
| Nail-patella-like renal disease | 7 tests |
| Namaqualand hip dysplasia | 1 test |
| Nance-Horan syndrome | 3 tests |
| Nanophthalmos 2 | 5 tests |
| Nasopharyngeal carcinoma | 4 tests |
| Naxos disease | 3 tests |
| Nemaline myopathy 10 | 4 tests |
| Nemaline myopathy 2 | 5 tests |
| Nemaline myopathy 5 | 5 tests |
| Nemaline myopathy 6 | 5 tests |
| Nemaline myopathy 7 | 5 tests |
| Nemaline myopathy 8 | 5 tests |
| Nemaline myopathy 9 | 5 tests |
| Neonatal diabetes mellitus with congenital hypothyroidism | 5 tests |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 5 tests |
| Neonatal ichthyosis-sclerosing cholangitis syndrome | 2 tests |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 1 test |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 7 tests |
| Neonatal severe primary hyperparathyroidism | 2 tests |
| Neonatal-onset encephalopathy with rigidity and seizures | 5 tests |
| Nephrogenic syndrome of inappropriate antidiuresis | 1 test |
| Nephronophthisis 1 | 2 tests |
| Nephronophthisis 11 | 11 tests |
| Nephronophthisis 12 | 10 tests |
| Nephronophthisis 13 | 1 test |
| Nephronophthisis 14 | 8 tests |
| Nephronophthisis 15 | 8 tests |
| Nephronophthisis 16 | 5 tests |
| Nephronophthisis 18 | 3 tests |
| Nephronophthisis 19 | 1 test |
| Nephronophthisis 20 | 3 tests |
| Nephronophthisis 3 | 1 test |
| Nephronophthisis 4 | 4 tests |
| Nephronophthisis 7 | 3 tests |
| Nephronophthisis 9 | 4 tests |
| Nephronophthisis-like nephropathy 1 | 5 tests |
| Nephropathic cystinosis | 9 tests |
| Nephrotic syndrome 14 | 4 tests |
| Nephrotic syndrome 15 | 3 tests |
| Nephrotic syndrome 16 | 1 test |
| Nephrotic syndrome, type 10 | 3 tests |
| Nephrotic syndrome, type 11 | 1 test |
| Nephrotic syndrome, type 12 | 3 tests |
| Nephrotic syndrome, type 18 | 1 test |
| Nephrotic syndrome, type 2 | 4 tests |
| Nephrotic syndrome, type 3 | 3 tests |
| Nephrotic syndrome, type 4 | 3 tests |
| Nephrotic syndrome, type 6 | 3 tests |
| Nephrotic syndrome, type 8 | 3 tests |
| Nephrotic syndrome, type 9 | 7 tests |
| Netherton syndrome | 4 tests |
| Neu-Laxova syndrome 1 | 6 tests |
| Neu-Laxova syndrome 2 | 1 test |
| Neural tube defect | 2 tests |
| Neural tube defects, folate-sensitive | 10 tests |
| Neuroblastoma, susceptibility to, 1 | 5 tests |
| Neuroblastoma, susceptibility to, 2 | 6 tests |
| Neuroblastoma, susceptibility to, 3 | 1 test |
| Neurocirculatory asthenia | 1 test |
| Neurocutaneous melanocytosis | 3 tests |
| Neurodegeneration with ataxia and late-onset optic atrophy | 3 tests |
| Neurodegeneration with brain iron accumulation 2B | 1 test |
| Neurodegeneration with brain iron accumulation 4 | 1 test |
| Neurodegeneration with brain iron accumulation 5 | 9 tests |
| Neurodegeneration with brain iron accumulation 6 | 1 test |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 test |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 4 tests |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 3 tests |
| Neurodevelopmental disorder with absent language and variable seizures | 3 tests |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 4 tests |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 2 tests |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 test |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 4 tests |
| Neurodevelopmental disorder with epilepsy and hemochromatosis | 3 tests |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 3 tests |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 3 tests |
| Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | 2 tests |
| Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | 2 tests |
| Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | 3 tests |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 2 tests |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 3 tests |
| Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 4 tests |
| Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | 2 tests |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 3 tests |
| Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies | 1 test |
| Neurodevelopmental disorder with involuntary movements | 4 tests |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 3 tests |
| Neurodevelopmental disorder with microcephaly and dysmorphic facies | 1 test |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 3 tests |
| Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | 3 tests |
| Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | 3 tests |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 3 tests |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 1 test |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 3 tests |
| Neurodevelopmental disorder with or without autism or seizures | 5 tests |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 3 tests |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 1 test |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 3 tests |
| Neurodevelopmental disorder with poor language and loss of hand skills | 1 test |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 4 tests |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 4 tests |
| Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | 1 test |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 1 test |
| Neurodevelopmental disorder with seizures and speech and walking impairment | 3 tests |
| Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | 1 test |
| Neurodevelopmental disorder with severe motor impairment and absent language | 3 tests |
| Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | 6 tests |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 test |
| Neurodevelopmental disorder with visual defects and brain anomalies | 4 tests |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 1 test |
| Neurodevelopmental, jaw, eye, and digital syndrome | 2 tests |
| Neuroferritinopathy | 1 test |
| Neurofibromatosis, familial spinal | 6 tests |
| Neurofibromatosis, type 1 | 6 tests |
| Neurofibromatosis, type 2 | 4 tests |
| Neurofibromatosis-Noonan syndrome | 13 tests |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 5 tests |
| Neurohypophyseal diabetes insipidus | 2 tests |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | 4 tests |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 3 tests |
| Neuronal ceroid lipofuscinosis | 7 tests |
| Neuronal ceroid lipofuscinosis 1 | 8 tests |
| Neuronal ceroid lipofuscinosis 10 | 8 tests |
| Neuronal ceroid lipofuscinosis 11 | 1 test |
| Neuronal ceroid lipofuscinosis 13 | 4 tests |
| Neuronal ceroid lipofuscinosis 2 | 1 test |
| Neuronal ceroid lipofuscinosis 3 | 9 tests |
| Neuronal ceroid lipofuscinosis 5 | 10 tests |
| Neuronal ceroid lipofuscinosis 7 | 1 test |
| Neuronal ceroid lipofuscinosis 8 | 1 test |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 9 tests |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 test |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | 2 tests |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 4 tests |
| Neuronopathy, distal hereditary motor, type 2A | 1 test |
| Neuronopathy, distal hereditary motor, type 2B | 1 test |
| Neuronopathy, distal hereditary motor, type 2C | 3 tests |
| Neuronopathy, distal hereditary motor, type 2D | 3 tests |
| Neuronopathy, distal hereditary motor, type 5A | 7 tests |
| Neuronopathy, distal hereditary motor, type 5B | 7 tests |
| Neuronopathy, distal hereditary motor, type 5C | 8 tests |
| Neuronopathy, distal hereditary motor, type 7A | 1 test |
| Neuronopathy, distal hereditary motor, type 7B | 1 test |
| Neurooculocardiogenitourinary syndrome | 3 tests |
| Neuropathy, congenital hypomyelinating, 2 | 1 test |
| Neuropathy, congenital hypomyelinating, 3 | 5 tests |
| Neuropathy, hereditary motor and sensory, type 6A | 1 test |
| Neuropathy, hereditary motor and sensory, type 6B | 6 tests |
| Neuropathy, hereditary sensory and autonomic, type 1A | 2 tests |
| Neuropathy, hereditary sensory and autonomic, type 1C | 4 tests |
| Neuropathy, hereditary sensory and autonomic, type 2A | 1 test |
| Neuropathy, hereditary sensory and autonomic, type 2B | 2 tests |
| Neuropathy, hereditary sensory, type 1D | 6 tests |
| Neuropathy, hereditary sensory, type 2C | 1 test |
| Neutral 1 amino acid transport defect | 4 tests |
| Neutral lipid storage myopathy | 3 tests |
| Neutropenia, severe congenital, 1, autosomal dominant | 4 tests |
| Neutropenia, severe congenital, 2, autosomal dominant | 1 test |
| Neutropenia, severe congenital, 8, autosomal dominant | 2 tests |
| Neutropenia, severe congenital, 9, autosomal dominant | 10 tests |
| Neutrophil immunodeficiency syndrome | 3 tests |
| Nevus comedonicus syndrome | 1 test |
| Newfoundland cone-rod dystrophy | 1 test |
| Nicolaides-Baraitser syndrome | 3 tests |
| Niemann-Pick disease, type A | 1 test |
| Niemann-Pick disease, type B | 12 tests |
| Niemann-Pick disease, type C1 | 13 tests |
| Niemann-Pick disease, type C2 | 12 tests |
| Night blindness, congenital stationary, type1i | 1 test |
| Nijmegen breakage syndrome-like disorder | 6 tests |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 6 tests |
| Non-ketotic hyperglycinemia | 9 tests |
| Non-syndromic X-linked intellectual disability | 2 tests |
| Nonarteritic anterior ischemic optic neuropathy, susceptibility to | 4 tests |
| Nonimmune chronic idiopathic neutropenia of adults | 3 tests |
| Nonpapillary renal cell carcinoma | 15 tests |
| Nonpersistence of intestinal lactase | 3 tests |
| Nonsyndromic congenital nail disorder 1 | 2 tests |
| Nonsyndromic congenital nail disorder 8 | 1 test |
| Noonan syndrome | 1 test |
| Noonan syndrome 1 | 11 tests |
| Noonan syndrome 10 | 5 tests |
| Noonan syndrome 11 | 3 tests |
| Noonan syndrome 13 | 1 test |
| Noonan syndrome 2 | 1 test |
| Noonan syndrome 3 | 5 tests |
| Noonan syndrome 4 | 1 test |
| Noonan syndrome 5 | 1 test |
| Noonan syndrome 6 | 4 tests |
| Noonan syndrome 8 | 6 tests |
| Noonan syndrome 9 | 3 tests |
| Noonan syndrome-like disorder with loose anagen hair 1 | 5 tests |
| Noonan syndrome-like disorder with loose anagen hair 2 | 3 tests |
| Norman-Roberts syndrome | 1 test |
| Normophosphatemic familial tumoral calcinosis | 5 tests |
| Norum disease | 1 test |
| Null pituitary adenoma | 1 test |
| Nystagmus 1, congenital, X-linked | 1 test |
| O'Donnell-Luria-Rodan syndrome | 3 tests |
| OBESITY (BMIQ9), SUSCEPTIBILITY TO | 1 test |
| OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO | 7 tests |
| Obesity | 10 tests |
| Obesity due to CEP19 deficiency | 2 tests |
| Obesity due to SIM1 deficiency | 1 test |
| Obesity due to congenital leptin deficiency | 8 tests |
| Obesity due to leptin receptor gene deficiency | 5 tests |
| Obesity due to pro-opiomelanocortin deficiency | 1 test |
| Obesity due to prohormone convertase I deficiency | 1 test |
| Obesity, hyperphagia, and developmental delay | 2 tests |
| Obsessive-compulsive disorder | 1 test |
| Occipital pachygyria and polymicrogyria | 2 tests |
| Occult macular dystrophy | 1 test |
| Ocular albinism, type I | 2 tests |
| Ocular albinism, type II | 1 test |
| Ocular cystinosis | 1 test |
| Oculoauricular syndrome | 2 tests |
| Oculocerebrofacial syndrome, Kaufman type | 3 tests |
| Oculocutaneous albinism type 1B | 7 tests |
| Oculocutaneous albinism type 3 | 3 tests |
| Oculocutaneous albinism type 4 | 1 test |
| Oculocutaneous albinism type 6 | 3 tests |
| Oculocutaneous albinism type 7 | 2 tests |
| Oculofaciocardiodental syndrome | 7 tests |
| Oculomaxillofacial dysostosis | 1 test |
| Oculootoradial syndrome | 1 test |
| Oculopharyngeal muscular dystrophy | 1 test |
| Oculotrichoanal syndrome | 1 test |
| Odonto-onycho-dermal dysplasia | 1 test |
| Odontochondrodysplasia 1 | 1 test |
| Ogden syndrome | 4 tests |
| Oguchi disease-1 | 2 tests |
| Oligoastrocytoma | 2 tests |
| Oligodendroglioma | 2 tests |
| Olmsted syndrome 1 | 1 test |
| Olmsted syndrome, X-linked | 1 test |
| Oocyte maturation defect 2 | 2 tests |
| Oocyte maturation defect 4 | 2 tests |
| Oocyte maturation defect 5 | 2 tests |
| Oocyte maturation defect 6 | 2 tests |
| Oocyte maturation defect 7 | 2 tests |
| Opsismodysplasia | 3 tests |
| Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 4 tests |
| Optic atrophy 12 | 2 tests |
| Optic atrophy 3 | 11 tests |
| Optic atrophy 5 | 1 test |
| Optic atrophy 9 | 1 test |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 test |
| Ornithine aminotransferase deficiency | 6 tests |
| Ornithine carbamoyltransferase deficiency | 11 tests |
| Orofacial cleft 11 | 6 tests |
| Orofacial cleft 15 | 1 test |
| Orofacial cleft 5 | 2 tests |
| Orofacial cleft 6, susceptibility to | 1 test |
| Orofacial cleft 8 | 1 test |
| Orofacial-digital syndrome IV | 9 tests |
| Orofaciodigital syndrome 16 | 4 tests |
| Orofaciodigital syndrome I | 12 tests |
| Orofaciodigital syndrome V | 4 tests |
| Orofaciodigital syndrome type 14 | 4 tests |
| Orofaciodigital syndrome type 6 | 3 tests |
| Oroticaciduria | 6 tests |
| Orthostatic hypotension 1 | 1 test |
| Osteoarthritis susceptibility 2 | 4 tests |
| Osteoarthritis susceptibility 5 | 1 test |
| Osteocraniostenosis | 2 tests |
| Osteofibrous dysplasia | 4 tests |
| Osteogenesis imperfecta type 10 | 5 tests |
| Osteogenesis imperfecta type 11 | 1 test |
| Osteogenesis imperfecta type 12 | 4 tests |
| Osteogenesis imperfecta type 13 | 5 tests |
| Osteogenesis imperfecta type 14 | 2 tests |
| Osteogenesis imperfecta type 15 | 1 test |
| Osteogenesis imperfecta type 16 | 4 tests |
| Osteogenesis imperfecta type 17 | 4 tests |
| Osteogenesis imperfecta type 5 | 5 tests |
| Osteogenesis imperfecta type 6 | 5 tests |
| Osteogenesis imperfecta type 7 | 5 tests |
| Osteogenesis imperfecta type 8 | 5 tests |
| Osteogenesis imperfecta type 9 | 5 tests |
| Osteogenesis imperfecta type I | 1 test |
| Osteogenesis imperfecta type III | 2 tests |
| Osteogenesis imperfecta with normal sclerae, dominant form | 2 tests |
| Osteogenesis imperfecta, perinatal lethal | 8 tests |
| Osteogenesis imperfecta, type 18 | 4 tests |
| Osteogenesis imperfecta, type 19 | 1 test |
| Osteogenesis imperfecta, type 20 | 2 tests |
| Osteoglophonic dysplasia | 1 test |
| Osteopathia striata with cranial sclerosis | 5 tests |
| Osteopetrosis with renal tubular acidosis | 6 tests |
| Osteopetrosis, autosomal dominant 3 | 1 test |
| Osteoporosis | 2 tests |
| Otitis media, susceptibility to | 1 test |
| Oto-palato-digital syndrome, type I | 8 tests |
| Oto-palato-digital syndrome, type II | 1 test |
| Otofaciocervical syndrome 1 | 1 test |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 1 test |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 1 test |
| Ovarian dysgenesis 1 | 1 test |
| Ovarian dysgenesis 2 | 2 tests |
| Ovarian dysgenesis 3 | 2 tests |
| Ovarian dysgenesis 6 | 3 tests |
| Ovarian dysgenesis 7 | 1 test |
| Ovarian hyperstimulation syndrome | 2 tests |
| Ovarian neoplasm | 7 tests |
| Overhydrated hereditary stomatocytosis | 1 test |
| Oxoglutaricaciduria | 3 tests |
| PCWH syndrome | 1 test |
| PEHO-like syndrome | 3 tests |
| PERCHING syndrome | 1 test |
| PGM1-congenital disorder of glycosylation | 9 tests |
| PHARC syndrome | 5 tests |
| PHGDH deficiency | 1 test |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 4 tests |
| PLIN1-related familial partial lipodystrophy | 1 test |
| PMM2-congenital disorder of glycosylation | 12 tests |
| PPARG-related familial partial lipodystrophy | 8 tests |
| PSAT deficiency | 4 tests |
| PULMONARY ALVEOLAR MICROLITHIASIS | 2 tests |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 4 tests |
| PYCR1-related de Barsy syndrome | 7 tests |
| Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | 1 test |
| Pallister-Hall syndrome | 1 test |
| Palmoplantar keratoderma i, striate, focal, or diffuse | 1 test |
| Palmoplantar keratoderma, Nagashima type | 1 test |
| Palmoplantar keratoderma, epidermolytic | 3 tests |
| Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | 2 tests |
| Palmoplantar keratoderma-deafness syndrome | 1 test |
| Palmoplantar keratoderma-esophageal carcinoma syndrome | 1 test |
| Pancreatic agenesis 2 | 3 tests |
| Pancreatic cancer, susceptibility to, 2 | 12 tests |
| Pancreatic cancer, susceptibility to, 3 | 7 tests |
| Pancreatic cancer, susceptibility to, 4 | 12 tests |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 3 tests |
| Pancreatic insufficiency-anemia-hyperostosis syndrome | 3 tests |
| Pancreatic insulin-producing neuroendocrine tumor | 1 test |
| Pancreatic triacylglycerol lipase deficiency | 1 test |
| Pancytopenia due to IKZF1 mutations | 3 tests |
| Pancytopenia-developmental delay syndrome | 2 tests |
| Papillary renal cell carcinoma type 1 | 3 tests |
| Papillon-Lefèvre syndrome | 5 tests |
| Paragangliomas 1 | 3 tests |
| Paragangliomas 2 | 5 tests |
| Paragangliomas 3 | 3 tests |
| Paragangliomas 4 | 3 tests |
| Paragangliomas 5 | 2 tests |
| Paramyotonia congenita of Von Eulenburg | 1 test |
| Parastremmatic dwarfism | 1 test |
| Parathyroid carcinoma | 2 tests |
| Parietal foramina 2 | 1 test |
| Parkinson disease 11, autosomal dominant, susceptibility to | 4 tests |
| Parkinson disease 13, autosomal dominant, susceptibility to | 1 test |
| Parkinson disease 17 | 2 tests |
| Parkinson disease 18, autosomal dominant, susceptibility to | 3 tests |
| Parkinson disease 22, autosomal dominant | 3 tests |
| Parkinson disease 24, autosomal dominant, susceptibility to | 1 test |
| Parkinson disease 5, autosomal dominant, susceptibility to | 1 test |
| Parkinson disease, late-onset | 9 tests |
| Parkinsonian-pyramidal syndrome | 3 tests |
| Parkinsonism-dystonia 3, childhood-onset | 5 tests |
| Paroxysmal extreme pain disorder | 1 test |
| Paroxysmal nocturnal hemoglobinuria 2 | 4 tests |
| Paroxysmal nonkinesigenic dyskinesia 1 | 4 tests |
| Partial androgen insensitivity syndrome | 3 tests |
| Partial chromosome Y deletion | 1 test |
| Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 1 test |
| Partington syndrome | 1 test |
| Patent ductus arteriosus 2 | 1 test |
| Patterned macular dystrophy 1 | 1 test |
| Patterned macular dystrophy 2 | 3 tests |
| Peeling skin syndrome 1 | 1 test |
| Peeling skin syndrome 4 | 2 tests |
| Peeling skin syndrome 5 | 2 tests |
| Peeling skin syndrome 6 | 2 tests |
| Peeling skin syndrome type A | 2 tests |
| Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome | 1 test |
| Pelger-Huet-like anomaly and episodic fever with abdominal pain | 1 test |
| Pelger-Huët anomaly | 1 test |
| Pelizaeus-Merzbacher disease | 1 test |
| Pelviscapular dysplasia | 5 tests |
| Pendred syndrome | 1 test |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 1 test |
| Periodontitis, aggressive 1 | 1 test |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 1 test |
| Periventricular heterotopia with microcephaly, autosomal recessive | 4 tests |
| Periventricular nodular heterotopia 7 | 3 tests |
| Perlman syndrome | 2 tests |
| Permanent neonatal diabetes mellitus 1 | 1 test |
| Peroxisome biogenesis disorder 10B | 6 tests |
| Peroxisome biogenesis disorder 11A (Zellweger) | 7 tests |
| Peroxisome biogenesis disorder 11B | 1 test |
| Peroxisome biogenesis disorder 12A (Zellweger) | 7 tests |
| Peroxisome biogenesis disorder 13A (Zellweger) | 7 tests |
| Peroxisome biogenesis disorder 14B | 6 tests |
| Peroxisome biogenesis disorder 1A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 1B | 3 tests |
| Peroxisome biogenesis disorder 2A (Zellweger) | 9 tests |
| Peroxisome biogenesis disorder 2B | 1 test |
| Peroxisome biogenesis disorder 3A (Zellweger) | 10 tests |
| Peroxisome biogenesis disorder 4A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 4B | 1 test |
| Peroxisome biogenesis disorder 5A (Zellweger) | 13 tests |
| Peroxisome biogenesis disorder 5B | 1 test |
| Peroxisome biogenesis disorder 6B | 11 tests |
| Peroxisome biogenesis disorder 7A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 7B | 11 tests |
| Peroxisome biogenesis disorder 8A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 8B | 7 tests |
| Peroxisome biogenesis disorder 9B | 1 test |
| Peroxisome biogenesis disorder type 3B | 1 test |
| Perrault syndrome 1 | 1 test |
| Perrault syndrome 2 | 5 tests |
| Perrault syndrome 3 | 8 tests |
| Perrault syndrome 4 | 7 tests |
| Perrault syndrome 5 | 1 test |
| Perrault syndrome 6 | 2 tests |
| Perry syndrome | 1 test |
| Persistent Mullerian duct syndrome | 3 tests |
| Persistent hyperplastic primary vitreous, autosomal recessive | 1 test |
| Peters plus syndrome | 5 tests |
| Pettigrew syndrome | 5 tests |
| Peutz-Jeghers syndrome | 6 tests |
| Pfeiffer syndrome | 2 tests |
| Phenylketonuria | 9 tests |
| Pheochromocytoma | 15 tests |
| Phosphate transport defect | 1 test |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 3 tests |
| Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 3 tests |
| Phosphoribosylpyrophosphate synthetase superactivity | 8 tests |
| Phytanic acid storage disease | 10 tests |
| Pick disease | 2 tests |
| Piebaldism | 9 tests |
| Pierpont syndrome | 2 tests |
| Pierson syndrome | 4 tests |
| Pigmentary pallidal degeneration | 9 tests |
| Pigmentary retinal dystrophy | 9 tests |
| Pigmented nodular adrenocortical disease, primary, 1 | 1 test |
| Pigmented nodular adrenocortical disease, primary, 2 | 2 tests |
| Pigmented nodular adrenocortical disease, primary, 3 | 4 tests |
| Pigmented paravenous retinochoroidal atrophy | 5 tests |
| Pilarowski-Bjornsson syndrome | 3 tests |
| Pili torti-deafness syndrome | 1 test |
| Pilomatrixoma | 2 tests |
| Pilomyxoid astrocytoma | 1 test |
| Pitt-Hopkins syndrome | 5 tests |
| Pitt-Hopkins-like syndrome 2 | 4 tests |
| Pituitary adenoma 3, multiple types | 3 tests |
| Pituitary adenoma 5, multiple types | 3 tests |
| Pituitary adenoma, growth hormone-secreting, 2 | 1 test |
| Pituitary dependent hypercortisolism | 4 tests |
| Pituitary hormone deficiency, combined, 1 | 6 tests |
| Pituitary hormone deficiency, combined, 2 | 6 tests |
| Pituitary hormone deficiency, combined, 6 | 6 tests |
| Pituitary stalk interruption syndrome | 2 tests |
| Pityriasis rubra pilaris | 2 tests |
| Plasminogen deficiency, type I | 2 tests |
| Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 3 tests |
| Platelet-type bleeding disorder 10 | 1 test |
| Platelet-type bleeding disorder 11 | 1 test |
| Platelet-type bleeding disorder 15 | 3 tests |
| Platelet-type bleeding disorder 16 | 4 tests |
| Platelet-type bleeding disorder 17 | 3 tests |
| Platelet-type bleeding disorder 20 | 3 tests |
| Platelet-type bleeding disorder 8 | 2 tests |
| Platyspondylic dysplasia, Torrance type | 1 test |
| Pleuropulmonary blastoma | 3 tests |
| Poikiloderma with neutropenia | 3 tests |
| Poirier-Bienvenu neurodevelopmental syndrome | 3 tests |
| Polycystic kidney disease 2 | 6 tests |
| Polycystic kidney disease 3 with or without polycystic liver disease | 3 tests |
| Polycystic kidney disease 4 | 6 tests |
| Polycystic kidney disease 5 | 3 tests |
| Polycystic kidney disease 6 with or without polycystic liver disease | 3 tests |
| Polycystic kidney disease, adult type | 3 tests |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | 6 tests |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | 5 tests |
| Polycystic liver disease 1 | 3 tests |
| Polycystic liver disease 2 | 3 tests |
| Polycystic liver disease 3 with or without kidney cysts | 2 tests |
| Polydactyly, postaxial, type A1 | 1 test |
| Polyendocrine-polyneuropathy syndrome | 1 test |
| Polyglandular autoimmune syndrome, type 1 | 4 tests |
| Polyglucosan body myopathy type 1 | 7 tests |
| Polyglucosan body myopathy type 2 | 1 test |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | 1 test |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 7 tests |
| Polymicrogyria, bilateral perisylvian, autosomal recessive | 1 test |
| Polyposis syndrome, hereditary mixed, 2 | 4 tests |
| Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | 2 tests |
| Polysyndactyly 4 | 1 test |
| Pontocerebellar hypoplasia type 10 | 5 tests |
| Pontocerebellar hypoplasia type 1A | 8 tests |
| Pontocerebellar hypoplasia type 1B | 10 tests |
| Pontocerebellar hypoplasia type 2A | 7 tests |
| Pontocerebellar hypoplasia type 2B | 8 tests |
| Pontocerebellar hypoplasia type 2C | 6 tests |
| Pontocerebellar hypoplasia type 2D | 5 tests |
| Pontocerebellar hypoplasia type 2E | 5 tests |
| Pontocerebellar hypoplasia type 4 | 7 tests |
| Pontocerebellar hypoplasia type 5 | 3 tests |
| Pontocerebellar hypoplasia type 6 | 11 tests |
| Pontocerebellar hypoplasia type 7 | 5 tests |
| Pontocerebellar hypoplasia type 8 | 6 tests |
| Pontocerebellar hypoplasia type 9 | 7 tests |
| Pontocerebellar hypoplasia, type 11 | 4 tests |
| Pontocerebellar hypoplasia, type 12 | 10 tests |
| Pontocerebellar hypoplasia, type 1C | 3 tests |
| Pontocerebellar hypoplasia, type 1D | 4 tests |
| Pontocerebellar hypoplasia, type 1E | 4 tests |
| Pontocerebellar hypoplasia, type 2F | 3 tests |
| Porencephaly 2 | 7 tests |
| Porencephaly-microcephaly-bilateral congenital cataract syndrome | 6 tests |
| Porokeratosis 3, disseminated superficial actinic type | 3 tests |
| Porphobilinogen synthase deficiency | 6 tests |
| Portal hypertension, noncirrhotic, 1 | 1 test |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 6 tests |
| Posterior column ataxia-retinitis pigmentosa syndrome | 6 tests |
| Potassium-aggravated myotonia | 1 test |
| Prader-Willi syndrome | 2 tests |
| Prader-Willi syndrome due to imprinting mutation | 1 test |
| Precocious puberty, central, 2 | 2 tests |
| Predisposition to invasive fungal disease due to CARD9 deficiency | 2 tests |
| Pregnancy loss, recurrent, susceptibility to, 1 | 1 test |
| Pregnancy loss, recurrent, susceptibility to, 2 | 1 test |
| Preimplantation embryonic lethality 1 | 2 tests |
| Premature ovarian failure 1 | 3 tests |
| Premature ovarian failure 11 | 1 test |
| Premature ovarian failure 15 | 2 tests |
| Premature ovarian failure 17 | 2 tests |
| Premature ovarian failure 3 | 6 tests |
| Premature ovarian failure 7 | 1 test |
| Preterm premature rupture of membranes | 1 test |
| Pretibial dystrophic epidermolysis bullosa | 1 test |
| Primary CD59 deficiency | 6 tests |
| Primary ciliary dyskinesia 10 | 8 tests |
| Primary ciliary dyskinesia 11 | 6 tests |
| Primary ciliary dyskinesia 12 | 6 tests |
| Primary ciliary dyskinesia 13 | 8 tests |
| Primary ciliary dyskinesia 14 | 8 tests |
| Primary ciliary dyskinesia 15 | 10 tests |
| Primary ciliary dyskinesia 16 | 8 tests |
| Primary ciliary dyskinesia 17 | 8 tests |
| Primary ciliary dyskinesia 18 | 6 tests |
| Primary ciliary dyskinesia 19 | 6 tests |
| Primary ciliary dyskinesia 2 | 7 tests |
| Primary ciliary dyskinesia 20 | 7 tests |
| Primary ciliary dyskinesia 21 | 6 tests |
| Primary ciliary dyskinesia 22 | 5 tests |
| Primary ciliary dyskinesia 23 | 6 tests |
| Primary ciliary dyskinesia 24 | 6 tests |
| Primary ciliary dyskinesia 25 | 7 tests |
| Primary ciliary dyskinesia 26 | 8 tests |
| Primary ciliary dyskinesia 27 | 5 tests |
| Primary ciliary dyskinesia 28 | 6 tests |
| Primary ciliary dyskinesia 29 | 4 tests |
| Primary ciliary dyskinesia 3 | 10 tests |
| Primary ciliary dyskinesia 30 | 6 tests |
| Primary ciliary dyskinesia 32 | 3 tests |
| Primary ciliary dyskinesia 33 | 4 tests |
| Primary ciliary dyskinesia 34 | 2 tests |
| Primary ciliary dyskinesia 35 | 5 tests |
| Primary ciliary dyskinesia 5 | 7 tests |
| Primary ciliary dyskinesia 6 | 8 tests |
| Primary ciliary dyskinesia 7 | 8 tests |
| Primary ciliary dyskinesia 9 | 10 tests |
| Primary coenzyme Q10 deficiency 8 | 5 tests |
| Primary erythromelalgia | 5 tests |
| Primary failure of tooth eruption | 1 test |
| Primary familial hypertrophic cardiomyopathy | 1 test |
| Primary familial polycythemia due to EPO receptor mutation | 1 test |
| Primary hyperoxaluria type 3 | 4 tests |
| Primary hyperoxaluria, type I | 7 tests |
| Primary hyperoxaluria, type II | 4 tests |
| Primary hypomagnesemia | 7 tests |
| Primary immunodeficiency syndrome due to p14 deficiency | 3 tests |
| Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | 5 tests |
| Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | 4 tests |
| Primary mediastinal large B-cell lymphoma | 1 test |
| Primary myelofibrosis | 3 tests |
| Primary open angle glaucoma | 1 test |
| Primrose syndrome | 5 tests |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 2 tests |
| Progressive bulbar palsy of childhood | 1 test |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 1 test |
| Progressive encephalopathy with leukodystrophy due to DECR deficiency | 2 tests |
| Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | 3 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 9 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 10 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 5 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 9 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | 3 tests |
| Progressive familial heart block type IB | 2 tests |
| Progressive familial heart block, type 1A | 1 test |
| Progressive familial intrahepatic cholestasis type 1 | 1 test |
| Progressive familial intrahepatic cholestasis type 2 | 5 tests |
| Progressive familial intrahepatic cholestasis type 3 | 1 test |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 1 test |
| Progressive myoclonic epilepsy type 3 | 6 tests |
| Progressive myoclonic epilepsy type 6 | 5 tests |
| Progressive myoclonic epilepsy type 7 | 5 tests |
| Progressive myoclonic epilepsy type 8 | 3 tests |
| Progressive myositis ossificans | 2 tests |
| Progressive osseous heteroplasia | 2 tests |
| Progressive pseudorheumatoid dysplasia | 3 tests |
| Progressive retinal dystrophy due to retinol transport defect | 3 tests |
| Progressive scapulohumeroperoneal distal myopathy | 1 test |
| Progressive sclerosing poliodystrophy | 14 tests |
| Progressive supranuclear palsy-parkinsonism syndrome | 4 tests |
| Prolactin-producing pituitary gland adenoma | 1 test |
| Prolidase deficiency | 5 tests |
| Proliferative vitreoretinopathy | 2 tests |
| Proline dehydrogenase deficiency | 6 tests |
| Properdin deficiency, X-linked | 2 tests |
| Propionic acidemia | 10 tests |
| Prostate cancer, hereditary, 1 | 1 test |
| Prostate cancer, hereditary, 2 | 1 test |
| Prostate cancer, hereditary, 9 | 2 tests |
| Protan defect | 1 test |
| Proteasome-associated autoinflammatory syndrome 1 | 2 tests |
| Proteasome-associated autoinflammatory syndrome 2 | 1 test |
| Proteasome-associated autoinflammatory syndrome 3 | 2 tests |
| Protein-losing enteropathy | 1 test |
| Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 1 test |
| Proteus syndrome | 2 tests |
| Protoplasmic astrocytoma | 2 tests |
| Protoporphyria, erythropoietic, 1 | 6 tests |
| Proximal myopathy with extrapyramidal signs | 6 tests |
| Proximal symphalangism 1A | 4 tests |
| Prune belly syndrome | 1 test |
| Pseudo von Willebrand disease | 1 test |
| Pseudo-Hurler polydystrophy | 1 test |
| Pseudo-TORCH syndrome 1 | 5 tests |
| Pseudo-TORCH syndrome 2 | 1 test |
| Pseudo-TORCH syndrome 3 | 1 test |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 5 tests |
| Pseudoexfoliation glaucoma | 1 test |
| Pseudohyperaldosteronism type 2 | 1 test |
| Pseudohypoaldosteronism type 2B | 3 tests |
| Pseudohypoaldosteronism type 2C | 6 tests |
| Pseudohypoaldosteronism type 2D | 3 tests |
| Pseudohypoaldosteronism type 2E | 1 test |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 3 tests |
| Pseudohypoparathyroidism type 1B | 2 tests |
| Pseudohypoparathyroidism type 1C | 2 tests |
| Pseudohypoparathyroidism type I A | 2 tests |
| Pseudopseudohypoparathyroidism | 2 tests |
| Pseudoxanthoma elasticum, forme fruste | 1 test |
| Psoriasis 15, pustular, susceptibility to | 1 test |
| Psoriasis 2 | 1 test |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 4 tests |
| Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | 3 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 2 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 1 test |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 test |
| Pulmonary hypertension, neonatal, susceptibility to | 6 tests |
| Pulmonary hypertension, primary, 1 | 1 test |
| Pulmonary hypertension, primary, 2 | 2 tests |
| Pulmonary hypertension, primary, 3 | 1 test |
| Pulmonary hypertension, primary, 4 | 3 tests |
| Pulmonary venoocclusive disease 1 | 3 tests |
| Pure gonadal dysgenesis 46,XY | 1 test |
| Purine-nucleoside phosphorylase deficiency | 3 tests |
| Pyknodysostosis | 7 tests |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 test |
| Pyogenic bacterial infections due to MyD88 deficiency | 2 tests |
| Pyridoxal phosphate-responsive seizures | 7 tests |
| Pyridoxine-dependent epilepsy | 7 tests |
| Pyropoikilocytosis, hereditary | 1 test |
| Pyruvate carboxylase deficiency | 10 tests |
| Pyruvate dehydrogenase E1-alpha deficiency | 11 tests |
| Pyruvate dehydrogenase E1-beta deficiency | 10 tests |
| Pyruvate dehydrogenase E2 deficiency | 8 tests |
| Pyruvate dehydrogenase E3 deficiency | 9 tests |
| Pyruvate dehydrogenase E3-binding protein deficiency | 9 tests |
| Pyruvate dehydrogenase phosphatase deficiency | 8 tests |
| Pyruvate kinase deficiency of red cells | 7 tests |
| Pyruvate kinase hyperactivity | 1 test |
| Quebec platelet disorder | 1 test |
| RAB23-related Carpenter syndrome | 4 tests |
| RFT1-congenital disorder of glycosylation | 6 tests |
| RHYNS syndrome | 1 test |
| RIDDLE syndrome | 4 tests |
| RIN2 syndrome | 4 tests |
| Rabson-Mendenhall syndrome | 1 test |
| Radial aplasia-thrombocytopenia syndrome | 4 tests |
| Radioulnar synostosis | 3 tests |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | 3 tests |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 3 tests |
| Rafiq syndrome | 6 tests |
| Rajab interstitial lung disease with brain calcifications 1 | 4 tests |
| Rapp-Hodgkin syndrome | 1 test |
| Rauch-Steindl syndrome | 1 test |
| Recessive dystrophic epidermolysis bullosa | 5 tests |
| Recurrent Neisseria infections due to factor D deficiency | 3 tests |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 4 tests |
| Regressive spondylometaphyseal dysplasia | 5 tests |
| Renal carnitine transport defect | 12 tests |
| Renal coloboma syndrome | 6 tests |
| Renal cysts and diabetes syndrome | 2 tests |
| Renal dysplasia, cystic, susceptibility to | 2 tests |
| Renal hypodysplasia/aplasia 1 | 3 tests |
| Renal hypodysplasia/aplasia 3 | 3 tests |
| Renal hypomagnesemia 2 | 6 tests |
| Renal hypomagnesemia 4 | 4 tests |
| Renal hypomagnesemia 5 with ocular involvement | 6 tests |
| Renal hypomagnesemia 6 | 1 test |
| Renal tubular acidosis with progressive nerve deafness | 6 tests |
| Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 5 tests |
| Renal tubular acidosis, distal, 4, with hemolytic anemia | 1 test |
| Renal tubular dysgenesis of genetic origin | 9 tests |
| Renal-hepatic-pancreatic dysplasia 1 | 10 tests |
| Renal-hepatic-pancreatic dysplasia 2 | 1 test |
| Renpenning syndrome | 5 tests |
| Respiratory papillomatosis, juvenile recurrent, congenital | 1 test |
| Restrictive dermopathy 2 | 1 test |
| Reticular dysgenesis | 5 tests |
| Reticulate acropigmentation of Kitamura | 1 test |
| Retinal cone dystrophy 3A | 2 tests |
| Retinal cone dystrophy 4 | 2 tests |
| Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | 1 test |
| Retinal macular dystrophy type 2 | 1 test |
| Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 1 test |
| Retinitis pigmentosa 1 | 2 tests |
| Retinitis pigmentosa 10 | 4 tests |
| Retinitis pigmentosa 11 | 2 tests |
| Retinitis pigmentosa 12 | 1 test |
| Retinitis pigmentosa 13 | 2 tests |
| Retinitis pigmentosa 14 | 1 test |
| Retinitis pigmentosa 17 | 2 tests |
| Retinitis pigmentosa 18 | 2 tests |
| Retinitis pigmentosa 19 | 1 test |
| Retinitis pigmentosa 2 | 2 tests |
| Retinitis pigmentosa 20 | 1 test |
| Retinitis pigmentosa 23 | 1 test |
| Retinitis pigmentosa 25 | 2 tests |
| Retinitis pigmentosa 26 | 3 tests |
| Retinitis pigmentosa 27 | 1 test |
| Retinitis pigmentosa 28 | 3 tests |
| Retinitis pigmentosa 3 | 1 test |
| Retinitis pigmentosa 30 | 1 test |
| Retinitis pigmentosa 31 | 2 tests |
| Retinitis pigmentosa 33 | 2 tests |
| Retinitis pigmentosa 35 | 1 test |
| Retinitis pigmentosa 36 | 2 tests |
| Retinitis pigmentosa 38 | 4 tests |
| Retinitis pigmentosa 39 | 7 tests |
| Retinitis pigmentosa 4 | 1 test |
| Retinitis pigmentosa 40 | 1 test |
| Retinitis pigmentosa 41 | 1 test |
| Retinitis pigmentosa 42 | 5 tests |
| Retinitis pigmentosa 43 | 3 tests |
| Retinitis pigmentosa 44 | 2 tests |
| Retinitis pigmentosa 45 | 2 tests |
| Retinitis pigmentosa 46 | 4 tests |
| Retinitis pigmentosa 47 | 1 test |
| Retinitis pigmentosa 48 | 2 tests |
| Retinitis pigmentosa 49 | 2 tests |
| Retinitis pigmentosa 50 | 5 tests |
| Retinitis pigmentosa 51 | 11 tests |
| Retinitis pigmentosa 54 | 1 test |
| Retinitis pigmentosa 55 | 1 test |
| Retinitis pigmentosa 56 | 2 tests |
| Retinitis pigmentosa 57 | 2 tests |
| Retinitis pigmentosa 58 | 2 tests |
| Retinitis pigmentosa 59 | 6 tests |
| Retinitis pigmentosa 60 | 2 tests |
| Retinitis pigmentosa 61 | 2 tests |
| Retinitis pigmentosa 62 | 2 tests |
| Retinitis pigmentosa 66 | 2 tests |
| Retinitis pigmentosa 68 | 2 tests |
| Retinitis pigmentosa 7 | 8 tests |
| Retinitis pigmentosa 70 | 2 tests |
| Retinitis pigmentosa 71 | 1 test |
| Retinitis pigmentosa 72 | 1 test |
| Retinitis pigmentosa 73 | 7 tests |
| Retinitis pigmentosa 74 | 10 tests |
| Retinitis pigmentosa 75 | 2 tests |
| Retinitis pigmentosa 76 | 8 tests |
| Retinitis pigmentosa 77 | 2 tests |
| Retinitis pigmentosa 78 | 1 test |
| Retinitis pigmentosa 79 | 1 test |
| Retinitis pigmentosa 80 | 1 test |
| Retinitis pigmentosa 81 | 4 tests |
| Retinitis pigmentosa 83 | 1 test |
| Retinitis pigmentosa 84 | 2 tests |
| Retinitis pigmentosa 87 with choroidal involvement | 5 tests |
| Retinitis pigmentosa 88 | 2 tests |
| Retinitis pigmentosa 93 | 1 test |
| Retinitis pigmentosa and erythrocytic microcytosis | 1 test |
| Retinitis pigmentosa with or without situs inversus | 2 tests |
| Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 1 test |
| Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | 3 tests |
| Retinoblastoma | 5 tests |
| Rett syndrome | 2 tests |
| Rett syndrome, congenital variant | 4 tests |
| Revesz syndrome | 1 test |
| Reynolds syndrome | 1 test |
| Rh-null, regulator type | 2 tests |
| Rhabdoid tumor predisposition syndrome 1 | 6 tests |
| Rhabdoid tumor predisposition syndrome 2 | 8 tests |
| Rhabdomyosarcoma, embryonal, 2 | 3 tests |
| Rheumatoid arthritis | 2 tests |
| Rhizomelic chondrodysplasia punctata type 1 | 15 tests |
| Rhizomelic chondrodysplasia punctata type 2 | 10 tests |
| Rhizomelic chondrodysplasia punctata type 3 | 10 tests |
| Rhizomelic chondrodysplasia punctata type 5 | 1 test |
| Rienhoff syndrome | 1 test |
| Right atrial isomerism | 3 tests |
| Ring dermoid of cornea | 1 test |
| Rippling muscle disease 2 | 1 test |
| Ritscher-Schinzel syndrome 1 | 6 tests |
| Ritscher-Schinzel syndrome 2 | 3 tests |
| Roberts-SC phocomelia syndrome | 6 tests |
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | 11 tests |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 1 test |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 10 tests |
| Rothmund-Thomson syndrome, type 3 | 4 tests |
| Rotor syndrome | 9 tests |
| Roussy-Lévy syndrome | 6 tests |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 9 tests |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 test |
| SCOTT SYNDROME | 2 tests |
| SERKAL syndrome | 2 tests |
| SHORT syndrome | 4 tests |
| SHOX-related short stature | 2 tests |
| SIN3A-related intellectual disability syndrome due to a point mutation | 3 tests |
| SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 2 tests |
| SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 1 test |
| SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | 3 tests |
| SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN | 1 test |
| SLC35A1-congenital disorder of glycosylation | 6 tests |
| SLC35A2-congenital disorder of glycosylation | 6 tests |
| SLC39A8-CDG | 3 tests |
| SSR4-congenital disorder of glycosylation | 5 tests |
| STAT3-related early-onset multisystem autoimmune disease | 8 tests |
| STING-associated vasculopathy with onset in infancy | 4 tests |
| STT3A-congenital disorder of glycosylation | 4 tests |
| STT3B-congenital disorder of glycosylation | 3 tests |
| SUDDEN INFANT DEATH SYNDROME | 3 tests |
| Sacral defect with anterior meningocele | 1 test |
| Saethre-Chotzen syndrome | 2 tests |
| Saldino-Mainzer syndrome | 6 tests |
| Salla disease | 9 tests |
| Sandhoff disease | 14 tests |
| Sarcotubular myopathy | 1 test |
| Scalp-ear-nipple syndrome | 1 test |
| Scapuloperoneal spinal muscular atrophy | 1 test |
| SchC6pf-Schulz-Passarge syndrome | 2 tests |
| Schaaf-Yang syndrome | 6 tests |
| Schimke immuno-osseous dysplasia | 5 tests |
| Schinzel phocomelia syndrome | 5 tests |
| Schinzel-Giedion syndrome | 1 test |
| Schizencephaly | 7 tests |
| Schizophrenia | 4 tests |
| Schizophrenia 18 | 1 test |
| Schizophrenia 6 | 1 test |
| Schneckenbecken dysplasia | 4 tests |
| Schuurs-Hoeijmakers syndrome | 2 tests |
| Schwannomatosis 1 | 5 tests |
| Schwannomatosis 2 | 1 test |
| Schwartz-Jampel syndrome type 1 | 1 test |
| Sclerosteosis 1 | 2 tests |
| Sclerosteosis 2 | 7 tests |
| Sea-blue histiocyte syndrome | 1 test |
| Seborrheic keratosis | 1 test |
| Seckel syndrome 1 | 7 tests |
| Seckel syndrome 2 | 1 test |
| Seckel syndrome 4 | 1 test |
| Seckel syndrome 5 | 8 tests |
| Seckel syndrome 6 | 4 tests |
| Seckel syndrome 8 | 1 test |
| Seckel syndrome 9 | 2 tests |
| Seizures, benign familial infantile, 2 | 6 tests |
| Seizures, benign familial infantile, 3 | 1 test |
| Seizures, benign familial infantile, 5 | 4 tests |
| Seizures, benign familial neonatal, 1 | 5 tests |
| Seizures, benign familial neonatal, 2 | 4 tests |
| Seizures-scoliosis-macrocephaly syndrome | 4 tests |
| Selective pituitary resistance to thyroid hormone | 4 tests |
| Senior-Loken syndrome 1 | 13 tests |
| Senior-Loken syndrome 5 | 4 tests |
| Senior-Loken syndrome 6 | 5 tests |
| Senior-Loken syndrome 7 | 9 tests |
| Senior-Loken syndrome 8 | 5 tests |
| Senior-Loken syndrome 9 | 8 tests |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 test |
| Septo-optic dysplasia sequence | 8 tests |
| Sessile serrated polyposis cancer syndrome | 4 tests |
| Severe X-linked mitochondrial encephalomyopathy | 1 test |
| Severe X-linked myotubular myopathy | 7 tests |
| Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | 1 test |
| Severe combined immunodeficiency due to CARD11 deficiency | 1 test |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 1 test |
| Severe combined immunodeficiency due to CD70 deficiency | 2 tests |
| Severe combined immunodeficiency due to CORO1A deficiency | 2 tests |
| Severe combined immunodeficiency due to CTPS1 deficiency | 3 tests |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 3 tests |
| Severe combined immunodeficiency due to IKK2 deficiency | 1 test |
| Severe combined immunodeficiency due to LAT deficiency | 5 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 10 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 5 tests |
| Severe dermatitis-multiple allergies-metabolic wasting syndrome | 2 tests |
| Severe early-childhood-onset retinal dystrophy | 3 tests |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 6 tests |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 4 tests |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 3 tests |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 3 tests |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 test |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 3 tests |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 5 tests |
| Severe myoclonic epilepsy in infancy | 9 tests |
| Severe neonatal-onset encephalopathy with microcephaly | 2 tests |
| Severe neurodegenerative syndrome with lipodystrophy | 1 test |
| Short QT syndrome type 3 | 2 tests |
| Short stature due to partial GHR deficiency | 6 tests |
| Short stature with nonspecific skeletal abnormalities | 1 test |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | 1 test |
| Short stature, microcephaly, and endocrine dysfunction | 2 tests |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 4 tests |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 test |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 6 tests |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 9 tests |
| Short-rib thoracic dysplasia 11 with or without polydactyly | 3 tests |
| Short-rib thoracic dysplasia 13 with or without polydactyly | 4 tests |
| Short-rib thoracic dysplasia 14 with polydactyly | 4 tests |
| Short-rib thoracic dysplasia 15 with polydactyly | 4 tests |
| Short-rib thoracic dysplasia 18 with polydactyly | 2 tests |
| Short-rib thoracic dysplasia 19 with or without polydactyly | 3 tests |
| Short-rib thoracic dysplasia 20 with polydactyly | 1 test |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 1 test |
| Short-rib thoracic dysplasia 7 with or without polydactyly | 5 tests |
| Short-rib thoracic dysplasia 8 with or without polydactyly | 4 tests |
| Shprintzen-Goldberg syndrome | 5 tests |
| Shwachman-Diamond syndrome 1 | 11 tests |
| Shwachman-Diamond syndrome 2 | 3 tests |
| Sialic acid storage disease, severe infantile type | 2 tests |
| Sialidosis type 2 | 6 tests |
| Sialuria | 10 tests |
| Sick sinus syndrome 1 | 1 test |
| Sick sinus syndrome 2, autosomal dominant | 1 test |
| Sick sinus syndrome 3, susceptibility to | 2 tests |
| Sideroblastic anemia 2 | 6 tests |
| Sideroblastic anemia 3 | 6 tests |
| Sifrim-Hitz-Weiss syndrome | 3 tests |
| Silent pituitary adenoma | 1 test |
| Simpson-Golabi-Behmel syndrome type 1 | 2 tests |
| Simpson-Golabi-Behmel syndrome type 2 | 1 test |
| Singleton-Merten syndrome 1 | 1 test |
| Singleton-Merten syndrome 2 | 2 tests |
| Sinoatrial node dysfunction and deafness | 5 tests |
| Sitosterolemia 1 | 6 tests |
| Sitosterolemia 2 | 6 tests |
| Six2-related frontonasal dysplasia | 2 tests |
| Sjögren-Larsson syndrome | 8 tests |
| Skeletal dysplasia, mild, with joint laxity and advanced bone age | 2 tests |
| Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | 3 tests |
| Skin/hair/eye pigmentation, variation in, 11 | 1 test |
| Skraban-Deardorff syndrome | 3 tests |
| Small cell lung carcinoma | 3 tests |
| Smith-Lemli-Opitz syndrome | 12 tests |
| Smith-Magenis syndrome | 6 tests |
| Smith-McCort dysplasia 1 | 8 tests |
| Smoking as a quantitative trait locus 3 | 3 tests |
| Sneddon syndrome | 3 tests |
| Snijders Blok-Campeau syndrome | 3 tests |
| Snowflake vitreoretinal degeneration | 1 test |
| Sodium serum level quantitative trait locus 1 | 1 test |
| Somatotroph adenoma | 2 tests |
| Sorsby fundus dystrophy | 1 test |
| Sotos syndrome | 8 tests |
| Southeast Asian ovalocytosis | 1 test |
| Spastic ataxia 1 | 7 tests |
| Spastic ataxia 2 | 4 tests |
| Spastic ataxia 3 | 1 test |
| Spastic ataxia 4 | 6 tests |
| Spastic ataxia 5 | 6 tests |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 4 tests |
| Spastic paraplegia 52, autosomal recessive | 6 tests |
| Spastic paraplegia 80, autosomal dominant | 5 tests |
| Spastic paraplegia 81, autosomal recessive | 5 tests |
| Spastic paraplegia 82, autosomal recessive | 3 tests |
| Spastic paraplegia 85, autosomal recessive | 1 test |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 6 tests |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 6 tests |
| Spastic tetraplegia and axial hypotonia, progressive | 2 tests |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 5 tests |
| Specific granule deficiency 1 | 2 tests |
| Specific granule deficiency 2 | 1 test |
| Spermatogenic failure 17 | 2 tests |
| Spermatogenic failure 18 | 1 test |
| Spermatogenic failure 25 | 1 test |
| Spermatogenic failure 7 | 2 tests |
| Spermatogenic failure 72 | 1 test |
| Spermatogenic failure 8 | 2 tests |
| Spermatogenic failure 9 | 1 test |
| Spermatogenic failure, Y-linked, 2 | 3 tests |
| Spermatogenic failures 50 | 1 test |
| Sphingolipid activator protein 1 deficiency | 8 tests |
| Spinal muscular atrophy with congenital bone fractures 2 | 3 tests |
| Spinal muscular atrophy, distal, autosomal recessive, 6 | 1 test |
| Spinal muscular atrophy, infantile, James type | 1 test |
| Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | 7 tests |
| Spinal muscular atrophy, type II | 2 tests |
| Spinal muscular atrophy, type IV | 4 tests |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 1 test |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 1 test |
| Spinocerebellar ataxia 44 | 1 test |
| Spinocerebellar ataxia 45 | 4 tests |
| Spinocerebellar ataxia 47 | 5 tests |
| Spinocerebellar ataxia 48 | 3 tests |
| Spinocerebellar ataxia 49 | 5 tests |
| Spinocerebellar ataxia 7 | 3 tests |
| Spinocerebellar ataxia type 1 | 3 tests |
| Spinocerebellar ataxia type 10 | 3 tests |
| Spinocerebellar ataxia type 11 | 4 tests |
| Spinocerebellar ataxia type 12 | 4 tests |
| Spinocerebellar ataxia type 13 | 4 tests |
| Spinocerebellar ataxia type 14 | 5 tests |
| Spinocerebellar ataxia type 15/16 | 1 test |
| Spinocerebellar ataxia type 17 | 1 test |
| Spinocerebellar ataxia type 19/22 | 6 tests |
| Spinocerebellar ataxia type 2 | 4 tests |
| Spinocerebellar ataxia type 21 | 4 tests |
| Spinocerebellar ataxia type 23 | 5 tests |
| Spinocerebellar ataxia type 25 | 1 test |
| Spinocerebellar ataxia type 26 | 1 test |
| Spinocerebellar ataxia type 27 | 4 tests |
| Spinocerebellar ataxia type 28 | 4 tests |
| Spinocerebellar ataxia type 29 | 1 test |
| Spinocerebellar ataxia type 31 | 3 tests |
| Spinocerebellar ataxia type 34 | 7 tests |
| Spinocerebellar ataxia type 35 | 4 tests |
| Spinocerebellar ataxia type 36 | 3 tests |
| Spinocerebellar ataxia type 37 | 4 tests |
| Spinocerebellar ataxia type 38 | 4 tests |
| Spinocerebellar ataxia type 40 | 4 tests |
| Spinocerebellar ataxia type 42 | 5 tests |
| Spinocerebellar ataxia type 5 | 4 tests |
| Spinocerebellar ataxia type 6 | 2 tests |
| Spinocerebellar ataxia type 8 | 3 tests |
| Spinocerebellar ataxia, autosomal recessive 23 | 2 tests |
| Spinocerebellar ataxia, autosomal recessive 24 | 3 tests |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 4 tests |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 test |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | 7 tests |
| Split hand-foot malformation 1 | 2 tests |
| Split hand-foot malformation 1 with sensorineural hearing loss | 1 test |
| Split hand-foot malformation 4 | 1 test |
| Spondylo-megaepiphyseal-metaphyseal dysplasia | 3 tests |
| Spondylo-ocular syndrome | 1 test |
| Spondylocarpotarsal synostosis syndrome | 1 test |
| Spondylocostal dysostosis 1, autosomal recessive | 6 tests |
| Spondylocostal dysostosis 2, autosomal recessive | 4 tests |
| Spondylocostal dysostosis 3, autosomal recessive | 1 test |
| Spondylocostal dysostosis 4, autosomal recessive | 1 test |
| Spondylocostal dysostosis 5 | 2 tests |
| Spondylocostal dysostosis 6, autosomal recessive | 2 tests |
| Spondyloenchondrodysplasia with immune dysregulation | 5 tests |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | 3 tests |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 4 tests |
| Spondyloepimetaphyseal dysplasia, Bieganski type | 10 tests |
| Spondyloepimetaphyseal dysplasia, Genevieve type | 1 test |
| Spondyloepimetaphyseal dysplasia, Maroteaux type | 1 test |
| Spondyloepimetaphyseal dysplasia, Missouri type | 4 tests |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | 4 tests |
| Spondyloepimetaphyseal dysplasia, Strudwick type | 1 test |
| Spondyloepimetaphyseal dysplasia, matrilin-3 type | 1 test |
| Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | 2 tests |
| Spondyloepiphyseal dysplasia congenita | 8 tests |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 4 tests |
| Spondyloepiphyseal dysplasia with metatarsal shortening | 1 test |
| Spondyloepiphyseal dysplasia, Stanescu type | 1 test |
| Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | 1 test |
| Spondylometaphyseal dysplasia - Sutcliffe type | 3 tests |
| Spondylometaphyseal dysplasia, Kozlowski type | 1 test |
| Spondyloperipheral dysplasia | 1 test |
| Spongiform encephalopathy with neuropsychiatric features | 2 tests |
| Spongy degeneration of central nervous system | 5 tests |
| Stankiewicz-Isidor syndrome | 3 tests |
| Stapes ankylosis with broad thumbs and toes | 1 test |
| Stargardt disease 3 | 1 test |
| Stargardt disease 4 | 6 tests |
| Steinert myotonic dystrophy syndrome | 4 tests |
| Sterile multifocal osteomyelitis with periostitis and pustulosis | 1 test |
| Stickler syndrome type 1 | 1 test |
| Stickler syndrome type 2 | 6 tests |
| Stickler syndrome, type 4 | 5 tests |
| Stiff skin syndrome | 2 tests |
| Stormorken syndrome | 1 test |
| Striatal degeneration, autosomal dominant 2 | 4 tests |
| Stromme syndrome | 6 tests |
| Structural brain anomalies with impaired intellectual development and craniosynostosis | 1 test |
| Sturge-Weber syndrome | 2 tests |
| Stuttering, familial persistent, 1 | 1 test |
| Stüve-Wiedemann syndrome 1 | 5 tests |
| Succinate-semialdehyde dehydrogenase deficiency | 8 tests |
| Succinyl-CoA acetoacetate transferase deficiency | 6 tests |
| Sucrase-isomaltase deficiency | 3 tests |
| Sudden infant death-dysgenesis of the testes syndrome | 3 tests |
| Sulfite oxidase deficiency | 6 tests |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 5 tests |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 5 tests |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 5 tests |
| Supranuclear palsy, progressive, 1 | 1 test |
| Supravalvar aortic stenosis | 6 tests |
| Surfactant metabolism dysfunction, pulmonary, 1 | 3 tests |
| Surfactant metabolism dysfunction, pulmonary, 2 | 3 tests |
| Surfactant metabolism dysfunction, pulmonary, 5 | 3 tests |
| Susceptibility to HIV infection | 4 tests |
| Susceptibility to mononeuropathy of the median nerve, mild | 1 test |
| Susceptibility to respiratory infections associated with CD8alpha chain mutation | 1 test |
| Sweeney-Cox syndrome | 3 tests |
| Symmetrical dyschromatosis of extremities | 10 tests |
| Symphalangism, proximal, 1B | 5 tests |
| Symphalangism-brachydactyly syndrome | 1 test |
| Syndromic X-linked intellectual disability 14 | 3 tests |
| Syndromic X-linked intellectual disability 94 | 3 tests |
| Syndromic X-linked intellectual disability Claes-Jensen type | 6 tests |
| Syndromic X-linked intellectual disability Hedera type | 1 test |
| Syndromic X-linked intellectual disability Lubs type | 2 tests |
| Syndromic X-linked intellectual disability Najm type | 1 test |
| Syndromic X-linked intellectual disability Nascimento type | 4 tests |
| Syndromic X-linked intellectual disability Raymond type | 3 tests |
| Syndromic X-linked intellectual disability Siderius type | 4 tests |
| Syndromic X-linked intellectual disability Snyder type | 4 tests |
| Syndromic microphthalmia type 5 | 1 test |
| Syndromic multisystem autoimmune disease due to ITCH deficiency | 3 tests |
| Synpolydactyly type 2 | 1 test |
| Systemic lupus erythematosus | 10 tests |
| Systemic lupus erythematosus, susceptibility to, 2 | 1 test |
| Systemic lupus erythematosus, susceptibility to, 9 | 4 tests |
| Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease | 1 test |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 4 tests |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 2 tests |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 1 test |
| TARP syndrome | 5 tests |
| TCF12-related craniosynostosis | 1 test |
| TFRC-related combined immunodeficiency | 2 tests |
| TMEM165-congenital disorder of glycosylation | 5 tests |
| TMEM199-CDG | 3 tests |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 test |
| Tall stature-scoliosis-macrodactyly of the great toes syndrome | 6 tests |
| Tangier disease | 5 tests |
| Tarsal-carpal coalition syndrome | 1 test |
| Tatton-Brown-Rahman overgrowth syndrome | 3 tests |
| Tay-Sachs disease | 21 tests |
| Tay-Sachs disease, variant AB | 5 tests |
| Teebi hypertelorism syndrome 1 | 3 tests |
| Teebi hypertelorism syndrome 2 | 1 test |
| Telangiectasia, hereditary hemorrhagic, type 1 | 4 tests |
| Telangiectasia, hereditary hemorrhagic, type 2 | 6 tests |
| Telangiectasia, hereditary hemorrhagic, type 5 | 3 tests |
| Temple-Baraitser syndrome | 4 tests |
| Temtamy preaxial brachydactyly syndrome | 5 tests |
| Temtamy syndrome | 4 tests |
| Terminal osseous dysplasia-pigmentary defects syndrome | 1 test |
| Testosterone 17-beta-dehydrogenase deficiency | 3 tests |
| Tetralogy of Fallot | 13 tests |
| Thanatophoric dysplasia type 1 | 1 test |
| Thanatophoric dysplasia, type 2 | 1 test |
| Thiopurine S-methyltransferase deficiency | 1 test |
| Thrombocythemia 1 | 4 tests |
| Thrombocythemia 2 | 5 tests |
| Thrombocytopenia 1 | 5 tests |
| Thrombocytopenia 2 | 4 tests |
| Thrombocytopenia 3 | 2 tests |
| Thrombocytopenia 4 | 4 tests |
| Thrombocytopenia 5 | 5 tests |
| Thrombocytopenia 6 | 1 test |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | 1 test |
| Thrombocytopenia, anemia, and myelofibrosis | 2 tests |
| Thrombomodulin-related bleeding disorder | 1 test |
| Thrombophilia due to activated protein C resistance | 6 tests |
| Thrombophilia due to protein C deficiency, autosomal dominant | 1 test |
| Thrombophilia due to protein C deficiency, autosomal recessive | 3 tests |
| Thrombophilia due to protein S deficiency, autosomal dominant | 2 tests |
| Thrombophilia due to thrombin defect | 10 tests |
| Thrombophilia, X-linked, due to factor 8 defect | 2 tests |
| Thrombophilia, X-linked, due to factor 9 defect | 4 tests |
| Thrombophilia, familial, due to decreased release of tissue plasminogen activator | 2 tests |
| Thyroglobulin synthesis defect | 2 tests |
| Thyroid cancer, nonmedullary, 1 | 1 test |
| Thyroid cancer, nonmedullary, 2 | 4 tests |
| Thyroid dyshormonogenesis 1 | 2 tests |
| Thyroid dyshormonogenesis 6 | 1 test |
| Thyroid hormone metabolism, abnormal 1 | 4 tests |
| Thyroid hormone resistance, generalized, autosomal dominant | 1 test |
| Thyroid hormone resistance, generalized, autosomal recessive | 1 test |
| Thyrotoxic periodic paralysis, susceptibility to, 1 | 1 test |
| Tibial muscular dystrophy | 2 tests |
| Tietz syndrome | 1 test |
| Timothy syndrome | 4 tests |
| Tobacco addiction, susceptibility to | 2 tests |
| Tooth agenesis, selective, 1 | 1 test |
| Tooth agenesis, selective, 3 | 2 tests |
| Tooth agenesis, selective, 4 | 1 test |
| Tooth agenesis, selective, X-linked, 1 | 1 test |
| Torsion dystonia 2 | 1 test |
| Torsion dystonia 4 | 1 test |
| Torsion dystonia 6 | 2 tests |
| Tourette syndrome | 1 test |
| Townes-Brocks syndrome 1 | 9 tests |
| Transcobalamin II deficiency | 5 tests |
| Transferrin serum level quantitative trait locus 2 | 1 test |
| Transient bullous dermolysis of the newborn | 1 test |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 2 tests |
| Treacher Collins syndrome 1 | 5 tests |
| Treacher Collins syndrome 2 | 4 tests |
| Treacher Collins syndrome 3 | 7 tests |
| Tremor, hereditary essential, 1 | 1 test |
| Tremor, hereditary essential, 4 | 1 test |
| Tremor, hereditary essential, 5 | 3 tests |
| Tricho-dento-osseous syndrome | 3 tests |
| Trichoepithelioma, multiple familial, 1 | 1 test |
| Trichohepatoenteric syndrome 1 | 4 tests |
| Trichohepatoenteric syndrome 2 | 2 tests |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 1 test |
| Trichorhinophalangeal dysplasia type I | 1 test |
| Trichorhinophalangeal syndrome, type III | 5 tests |
| Trichothiodystrophy 1, photosensitive | 7 tests |
| Trichothiodystrophy 2, photosensitive | 2 tests |
| Trichothiodystrophy 3, photosensitive | 2 tests |
| Trichothiodystrophy 4, nonphotosensitive | 2 tests |
| Trichothiodystrophy 5, nonphotosensitive | 3 tests |
| Trichothiodystrophy 8, nonphotosensitive | 1 test |
| Trichothiodystrophy 9, nonphotosensitive | 1 test |
| Trichotillomania | 1 test |
| Triglyceride storage disease with ichthyosis | 6 tests |
| Trigonocephaly 1 | 1 test |
| Trigonocephaly 2 | 1 test |
| Trimethylaminuria | 1 test |
| Triosephosphate isomerase deficiency | 4 tests |
| Tropical pancreatitis | 2 tests |
| Troyer syndrome | 6 tests |
| Tuberous sclerosis 1 | 13 tests |
| Tuberous sclerosis 2 | 12 tests |
| Tubulointerstitial kidney disease, autosomal dominant, 2 | 3 tests |
| Tumor predisposition syndrome 3 | 4 tests |
| Tumoral calcinosis, hyperphosphatemic, familial, 1 | 3 tests |
| Tumoral calcinosis, hyperphosphatemic, familial, 2 | 1 test |
| Type 1 diabetes mellitus 10 | 1 test |
| Type 1 diabetes mellitus 12 | 4 tests |
| Type 1 diabetes mellitus 2 | 1 test |
| Type 1 diabetes mellitus 20 | 1 test |
| Type 2 diabetes mellitus | 24 tests |
| Type A2 brachydactyly | 4 tests |
| Type I complement component 8 deficiency | 2 tests |
| Type II complement component 8 deficiency | 2 tests |
| Tyrosinase-negative oculocutaneous albinism | 1 test |
| Tyrosinase-positive oculocutaneous albinism | 3 tests |
| Tyrosinemia type I | 11 tests |
| Tyrosinemia type II | 5 tests |
| Tyrosinemia type III | 5 tests |
| UDPglucose-4-epimerase deficiency | 6 tests |
| UV-sensitive syndrome 1 | 1 test |
| UV-sensitive syndrome 2 | 5 tests |
| UV-sensitive syndrome 3 | 1 test |
| Ulerythema ophryogenesis | 3 tests |
| Ullrich congenital muscular dystrophy 1A | 7 tests |
| Ullrich congenital muscular dystrophy 2 | 1 test |
| Ulnar-mammary syndrome | 7 tests |
| Unilateral renal agenesis | 2 tests |
| Unverricht-Lundborg syndrome | 6 tests |
| Upshaw-Schulman syndrome | 4 tests |
| Urinary bladder, atony of | 1 test |
| Urocanate hydratase deficiency | 3 tests |
| Urofacial syndrome 2 | 3 tests |
| Urofacial syndrome type 1 | 3 tests |
| Uruguay Faciocardiomusculoskeletal syndrome | 4 tests |
| Usher syndrome type 1 | 1 test |
| Usher syndrome type 1C | 1 test |
| Usher syndrome type 1D | 3 tests |
| Usher syndrome type 1F | 7 tests |
| Usher syndrome type 1G | 3 tests |
| Usher syndrome type 1J | 1 test |
| Usher syndrome type 2A | 3 tests |
| Usher syndrome type 2C | 5 tests |
| Usher syndrome type 2D | 3 tests |
| Usher syndrome type 3A | 4 tests |
| Usher syndrome type 3B | 1 test |
| Usher syndrome, type 1M | 1 test |
| Usher syndrome, type 4 | 2 tests |
| Uveal coloboma-cleft lip and palate-intellectual disability | 1 test |
| Uveal melanoma | 1 test |
| VACTERL association, X-linked, with or without hydrocephalus | 1 test |
| VEXAS syndrome | 1 test |
| VISS syndrome | 2 tests |
| Van Maldergem syndrome 1 | 1 test |
| Van Maldergem syndrome 2 | 6 tests |
| Van der Woude syndrome 1 | 1 test |
| Van der Woude syndrome 2 | 2 tests |
| Vanishing white matter disease | 13 tests |
| Variegate porphyria | 8 tests |
| Vasculitis due to ADA2 deficiency | 1 test |
| Velocardiofacial syndrome | 1 test |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 2 tests |
| Ventricular fibrillation, paroxysmal familial, 2 | 1 test |
| Ventricular fibrillation, paroxysmal familial, type 1 | 1 test |
| Ventricular septal defect 2 | 1 test |
| Ventricular septal defect 3 | 2 tests |
| Ventriculomegaly and arthrogryposis | 1 test |
| Ventriculomegaly-cystic kidney disease | 3 tests |
| Vertebral anomalies and variable endocrine and T-cell dysfunction | 1 test |
| Vertebral, cardiac, renal, and limb defects syndrome 1 | 3 tests |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | 3 tests |
| Vertebral, cardiac, renal, and limb defects syndrome 3 | 3 tests |
| Ververi-Brady syndrome | 3 tests |
| Very long chain acyl-CoA dehydrogenase deficiency | 10 tests |
| Vesicoureteral reflux 2 | 4 tests |
| Vesicoureteral reflux 3 | 4 tests |
| Vici syndrome | 7 tests |
| Visceral myopathy 1 | 1 test |
| Visceral myopathy 2 | 1 test |
| Vissers-Bodmer syndrome | 3 tests |
| Vitamin D hydroxylation-deficient rickets, type 1B | 2 tests |
| Vitamin D-dependent rickets type II with alopecia | 4 tests |
| Vitamin D-dependent rickets, type 1A | 5 tests |
| Vitamin K-dependent clotting factors, combined deficiency of, type 1 | 1 test |
| Vitelliform macular dystrophy 2 | 1 test |
| Vitelliform macular dystrophy 3 | 1 test |
| Vitelliform macular dystrophy 4 | 1 test |
| Vitelliform macular dystrophy 5 | 1 test |
| Vitiligo-associated multiple autoimmune disease susceptibility 1 | 2 tests |
| Von Hippel-Lindau syndrome | 6 tests |
| WHIM syndrome 1 | 4 tests |
| Waardenburg syndrome type 1 | 8 tests |
| Waardenburg syndrome type 2A | 1 test |
| Waardenburg syndrome type 2D | 1 test |
| Waardenburg syndrome type 2E | 12 tests |
| Waardenburg syndrome type 3 | 1 test |
| Waardenburg syndrome type 4A | 1 test |
| Waardenburg syndrome type 4B | 1 test |
| Waardenburg syndrome type 4C | 1 test |
| Waardenburg syndrome, IIa 2F | 1 test |
| Wagner syndrome | 5 tests |
| Warburg micro syndrome 1 | 6 tests |
| Warburg micro syndrome 2 | 1 test |
| Warburg micro syndrome 3 | 6 tests |
| Warburg micro syndrome 4 | 4 tests |
| Warburg-cinotti syndrome | 6 tests |
| Warfarin response | 1 test |
| Warfarin sensitivity, X-linked | 1 test |
| Warsaw breakage syndrome | 2 tests |
| Weaver syndrome | 5 tests |
| Webb-Dattani syndrome | 1 test |
| Weill-Marchesani syndrome 1 | 5 tests |
| Weill-Marchesani syndrome 2, dominant | 2 tests |
| Weill-Marchesani syndrome 3 | 2 tests |
| Welander distal myopathy | 3 tests |
| Werdnig-Hoffmann disease | 2 tests |
| Werner syndrome | 3 tests |
| Wieacker-Wolff syndrome | 1 test |
| Wieacker-Wolff syndrome, female-restricted | 5 tests |
| Wiedemann-Steiner syndrome | 3 tests |
| Wilms tumor 1 | 25 tests |
| Wilms tumor 6 | 2 tests |
| Wilson disease | 13 tests |
| Wilson-Turner syndrome | 3 tests |
| Wiskott-Aldrich syndrome | 1 test |
| Wiskott-Aldrich syndrome 2 | 2 tests |
| Wolcott-Rallison dysplasia | 6 tests |
| Wolff-Parkinson-White pattern | 8 tests |
| Wolfram syndrome 1 | 1 test |
| Wolfram syndrome 2 | 6 tests |
| Wolfram-like syndrome | 1 test |
| Wolman disease | 6 tests |
| Woodhouse-Sakati syndrome | 8 tests |
| Woolly hair-skin fragility syndrome | 1 test |
| Wooly hair-palmoplantar keratoderma syndrome | 3 tests |
| Wrinkly skin syndrome | 10 tests |
| X-linked Alport syndrome | 5 tests |
| X-linked Emery-Dreifuss muscular dystrophy | 4 tests |
| X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | 1 test |
| X-linked Opitz G/BBB syndrome | 4 tests |
| X-linked agammaglobulinemia | 2 tests |
| X-linked agammaglobulinemia with growth hormone deficiency | 3 tests |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 2 tests |
| X-linked chondrodysplasia punctata 1 | 5 tests |
| X-linked complicated corpus callosum dysgenesis | 1 test |
| X-linked cone-rod dystrophy 1 | 1 test |
| X-linked cone-rod dystrophy 3 | 4 tests |
| X-linked distal spinal muscular atrophy type 3 | 11 tests |
| X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 1 test |
| X-linked dystonia-parkinsonism | 3 tests |
| X-linked erythropoietic protoporphyria | 1 test |
| X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome | 1 test |
| X-linked hydrocephalus syndrome | 8 tests |
| X-linked ichthyosis with steryl-sulfatase deficiency | 5 tests |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 7 tests |
| X-linked intellectual disability Cabezas type | 7 tests |
| X-linked intellectual disability with marfanoid habitus | 2 tests |
| X-linked intellectual disability, Cantagrel type | 4 tests |
| X-linked intellectual disability, Stocco dos Santos type | 4 tests |
| X-linked intellectual disability, van Esch type | 1 test |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 8 tests |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 2 tests |
| X-linked intellectual disability-short stature-overweight syndrome | 2 tests |
| X-linked lissencephaly with abnormal genitalia | 1 test |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 2 tests |
| X-linked lymphoproliferative disease due to XIAP deficiency | 2 tests |
| X-linked mixed hearing loss with perilymphatic gusher | 2 tests |
| X-linked myopathy with excessive autophagy | 2 tests |
| X-linked myopathy with postural muscle atrophy | 4 tests |
| X-linked parkinsonism-spasticity syndrome | 1 test |
| X-linked progressive cerebellar ataxia | 4 tests |
| X-linked recessive nephrolithiasis with renal failure | 1 test |
| X-linked reticulate pigmentary disorder | 5 tests |
| X-linked scapuloperoneal muscular dystrophy | 3 tests |
| X-linked severe combined immunodeficiency | 1 test |
| X-linked severe congenital neutropenia | 1 test |
| X-linked sideroblastic anemia 1 | 10 tests |
| X-linked sideroblastic anemia with ataxia | 6 tests |
| X-linked spondyloepimetaphyseal dysplasia | 3 tests |
| XFE progeroid syndrome | 1 test |
| Xeroderma pigmentosum group A | 1 test |
| Xeroderma pigmentosum group B | 1 test |
| Xeroderma pigmentosum, group C | 2 tests |
| Xeroderma pigmentosum, group D | 2 tests |
| Xeroderma pigmentosum, group F | 1 test |
| Xeroderma pigmentosum, group G | 5 tests |
| Yao syndrome | 1 test |
| Yunis-Varon syndrome | 1 test |
| ZTTK syndrome | 3 tests |
| Zimmermann-Laband syndrome 1 | 1 test |
| Zimmermann-Laband syndrome 2 | 1 test |
| Zinc deficiency, transient neonatal | 2 tests |
| alpha Thalassemia | 4 tests |
| von Willebrand disease type 1 | 1 test |
| von Willebrand disease type 2 | 1 test |
| von Willebrand disease type 3 | 3 tests |