15q11q13 microduplication syndrome | 1 | Aug 31, 2022 |
16p13.11 microdeletion syndrome | 1 | Aug 31, 2022 |
16p13.11 microduplication syndrome | 2 | Aug 31, 2022 |
20p12.3 microdeletion syndrome | 1 | Aug 31, 2022 |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 3 | Oct 31, 2023 |
3M syndrome 1 | 1 | Oct 31, 2023 |
46,XX sex reversal 1 | 2 | Aug 31, 2022 |
46,XY disorder of sex development | 1 | Jul 6, 2021 |
46,XY ovotesticular disorder of sex development | 1 | May 16, 2022 |
46,XY sex reversal 7 | 1 | Aug 31, 2022 |
5p partial monosomy syndrome | 2 | Aug 31, 2022 |
7q11.23 microduplication syndrome | 1 | Aug 31, 2022 |
8p inverted duplication/deletion syndrome | 1 | Aug 31, 2022 |
Abnormal pulmonary interstitial morphology | 1 | Jan 24, 2022 |
Acrocephalosyndactyly type I | 1 | May 16, 2022 |
Acrodermatitis continua suppurativa of Hallopeau | 1 | Sep 17, 2024 |
Androgen resistance syndrome | 7 | Sep 17, 2024 |
Anemia | 1 | Feb 1, 2022 |
Angelman syndrome | 5 | Aug 31, 2022 |
Angioosteohypertrophic syndrome | 3 | May 16, 2022 |
Arteriovenous malformation | 1 | Jun 17, 2021 |
Aural atresia, congenital | 2 | Aug 31, 2022 |
Autism | 2 | Aug 31, 2022 |
Autoimmune interstitial lung disease-arthritis syndrome | 1 | Oct 31, 2023 |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 1 | Sep 17, 2024 |
Autosomal dominant hyperinsulinism due to SUR1 deficiency | 1 | Mar 14, 2022 |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 2 | Sep 17, 2024 |
Beckwith-Wiedemann syndrome | 1 | Aug 31, 2022 |
Blue rubber bleb nevus | 1 | May 16, 2022 |
Bradycardia | 1 | Aug 31, 2022 |
Bronchopulmonary dysplasia of newborn | 1 | Feb 1, 2022 |
Capillary Telangiectasia, Brain | 1 | Jun 21, 2021 |
Capillary infantile hemangioma | 3 | May 16, 2022 |
Capillary malformation | 2 | Jan 30, 2024 |
Capillary malformation-arteriovenous malformation 1 | 11 | Sep 17, 2024 |
Capillary malformation-arteriovenous malformation 2 | 2 | Oct 31, 2023 |
Capillary malformation-arteriovenous malformation syndrome | 1 | May 16, 2022 |
Cardiomyopathy | 1 | Aug 31, 2022 |
Cerebral arteriovenous malformation | 2 | Jan 30, 2024 |
Cerebral cavernous malformation | 5 | Sep 17, 2024 |
Cerebral cavernous malformation 2 | 1 | Mar 17, 2022 |
Childhood hypophosphatasia | 5 | Sep 17, 2024 |
Chromosome 10q23 deletion syndrome | 1 | Aug 31, 2022 |
Chromosome 15q13.3 microdeletion syndrome | 3 | Aug 31, 2022 |
Chromosome 16p11.2 duplication syndrome | 2 | Aug 31, 2022 |
Chromosome 16p13.3 duplication syndrome | 1 | Aug 31, 2022 |
Chromosome 17q11.2 deletion syndrome, 1.4Mb | 1 | Aug 31, 2022 |
Chromosome 17q12 deletion syndrome | 2 | Aug 31, 2022 |
Chromosome 1p36 deletion syndrome | 3 | Aug 31, 2022 |
Chromosome 1p36 deletion syndrome, proximal | 1 | Aug 31, 2022 |
Chromosome 1q21.1 deletion syndrome | 3 | Aug 31, 2022 |
Chromosome 1q21.1 duplication syndrome | 3 | Aug 31, 2022 |
Chromosome 1q41-q42 deletion syndrome | 1 | Aug 31, 2022 |
Chromosome 22q11.2 deletion syndrome, distal | 1 | Oct 31, 2023 |
Chromosome 22q11.2 microduplication syndrome | 5 | Aug 31, 2022 |
Chromosome 2q32-q33 deletion syndrome | 1 | Aug 31, 2022 |
Chromosome 2q37 deletion syndrome | 2 | Aug 31, 2022 |
Chromosome 3q13.31 deletion syndrome | 1 | Aug 31, 2022 |
Chromosome 3q29 microdeletion syndrome | 1 | Aug 31, 2022 |
Chromosome 6q11-q14 deletion syndrome | 1 | Aug 31, 2022 |
Chromosome 9p deletion syndrome | 4 | Aug 31, 2022 |
Chromosome Xp11.22 duplication syndrome | 1 | Aug 31, 2022 |
Chromosome Xq28 duplication syndrome | 1 | Aug 31, 2022 |
Cleidocranial dysostosis | 1 | May 16, 2022 |
Coffin-Siris syndrome 1 | 2 | Aug 31, 2022 |
Complete trisomy 13 syndrome | 1 | Aug 31, 2022 |
Congenital malabsorptive diarrhea 4 | 1 | Oct 31, 2023 |
Cowden syndrome | 1 | Jan 30, 2024 |
Cowden syndrome 1 | 3 | Sep 17, 2024 |
Craniosynostosis 2 | 1 | Oct 31, 2023 |
Craniosynostosis syndrome | 2 | Jul 6, 2021 |
Crouzon syndrome | 1 | Mar 27, 2023 |
Cyclical vomiting syndrome | 1 | Aug 31, 2022 |
DDX41-related hematologic malignancy predisposition syndrome | 1 | Sep 17, 2024 |
Deficiency of steroid 17-alpha-monooxygenase | 2 | Apr 12, 2022 |
Delayed speech and language development | 2 | Aug 31, 2022 |
Deletion of long arm of chromosome 18 | 1 | Aug 31, 2022 |
Deletion of short arm of chromosome 18 | 2 | Aug 31, 2022 |
DiGeorge syndrome | 7 | Oct 31, 2023 |
Diabetes mellitus, transient neonatal, 2 | 1 | Oct 31, 2023 |
Dilated cardiomyopathy 1DD | 1 | Aug 31, 2022 |
Disorder of lung | 1 | Feb 1, 2022 |
Distal 16p11.2 microdeletion syndrome | 2 | Aug 31, 2022 |
Distal tetrasomy 15q | 2 | Aug 31, 2022 |
Drash syndrome | 1 | Oct 31, 2023 |
Eczematoid dermatitis | 1 | Feb 1, 2022 |
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 1 | Oct 31, 2023 |
FGFR2-related craniosynostosis | 1 | Sep 17, 2024 |
FRAXE | 1 | Aug 31, 2022 |
Familial clubfoot due to 17q23.1q23.2 microduplication | 1 | Aug 31, 2022 |
Familial multiple nevi flammei | 1 | Oct 31, 2023 |
Feeding difficulties | 1 | Feb 1, 2022 |
Gastroesophageal reflux | 1 | Feb 1, 2022 |
Global developmental delay | 3 | Aug 31, 2022 |
Gorham-Stout disease | 1 | Mar 27, 2023 |
Granulomatous disease, chronic, X-linked | 1 | Aug 31, 2022 |
Greig cephalopolysyndactyly syndrome | 1 | Aug 31, 2022 |
HRAS-related disorder | 2 | Sep 17, 2024 |
Hearing impairment | 1 | Aug 31, 2022 |
Heart, malformation of | 1 | Aug 31, 2022 |
Hereditary hemorrhagic telangiectasia | 3 | May 16, 2022 |
Hereditary liability to pressure palsies | 1 | Aug 31, 2022 |
Hereditary lymphedema type I | 3 | Oct 31, 2023 |
Hermansky-Pudlak syndrome 1 | 1 | Aug 31, 2022 |
Holoprosencephaly 3 | 1 | Aug 31, 2022 |
Hunter-McAlpine craniosynostosis | 1 | Aug 31, 2022 |
Hydrocephalus | 2 | Aug 31, 2022 |
Hyper-IgM syndrome type 1 | 1 | Sep 17, 2024 |
Hyperglycemia | 1 | Apr 19, 2023 |
Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Sep 17, 2024 |
Hyperinsulinism due to HNF1A deficiency | 2 | May 16, 2022 |
Hyperinsulinism due to INSR deficiency | 2 | Sep 17, 2024 |
Hypoglycemia | 2 | Jan 30, 2024 |
Hypogonadism with anosmia | 1 | May 16, 2022 |
Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Sep 17, 2024 |
Hypoplastic left heart syndrome 1 | 2 | Aug 31, 2022 |
Hypotonia | 1 | Aug 31, 2022 |
Immunodeficiency, common variable, 12 | 1 | Aug 31, 2022 |
Intellectual disability, autosomal dominant 1 | 1 | Aug 31, 2022 |
Intellectual disability, autosomal dominant 20 | 1 | Aug 31, 2022 |
Intellectual disability, autosomal dominant 22 | 1 | Aug 31, 2022 |
Interstitial lung disease due to ABCA3 deficiency | 2 | Oct 31, 2023 |
Intestinal obstruction | 1 | Jul 6, 2021 |
Intestinal pseudo-obstruction | 1 | Feb 7, 2022 |
Juvenile nasopharyngeal angiofibroma | 2 | Sep 17, 2024 |
Koolen-de Vries syndrome | 1 | Aug 31, 2022 |
Lacrimoauriculodentodigital syndrome 3 | 1 | Oct 31, 2023 |
Lamb-Shaffer syndrome | 1 | Aug 31, 2022 |
Langer-Giedion syndrome | 1 | Aug 31, 2022 |
Lymphatic malformation | 3 | Oct 31, 2023 |
MEGF8-related Carpenter syndrome | 2 | Oct 31, 2023 |
Maturity onset diabetes mellitus in young | 6 | Jun 15, 2021 |
Maturity-onset diabetes of the young type 1 | 2 | Sep 17, 2024 |
Maturity-onset diabetes of the young type 10 | 1 | Dec 5, 2022 |
Maturity-onset diabetes of the young type 13 | 1 | Oct 31, 2023 |
Maturity-onset diabetes of the young type 2 | 7 | Sep 17, 2024 |
Maturity-onset diabetes of the young type 3 | 5 | Sep 17, 2024 |
Maturity-onset diabetes of the young type 4 | 1 | Oct 31, 2023 |
Mayer Rokitansky Kuster Hauser syndrome type 1 | 1 | Aug 31, 2022 |
Megacystis, microcolon, hypoperistalsis syndrome | 1 | Mar 29, 2022 |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 1 | Oct 31, 2023 |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 4 | Oct 31, 2023 |
Microcephaly, normal intelligence and immunodeficiency | 1 | Sep 17, 2024 |
Micropenis | 1 | Mar 14, 2022 |
Miller Dieker syndrome | 1 | Aug 31, 2022 |
Mosaic trisomy 2 | 1 | Aug 31, 2022 |
Muenke syndrome | 1 | May 16, 2022 |
Multiple congenital anomalies/dysmorphic syndrome | 1 | Aug 31, 2022 |
Multiple cutaneous and mucosal venous malformations | 4 | Sep 17, 2024 |
Nail-patella syndrome | 1 | Aug 31, 2022 |
Neurodevelopmental delay | 6 | Aug 31, 2022 |
Neurofibromatosis, type 1 | 1 | Aug 31, 2022 |
Overgrowth syndrome | 1 | Jan 30, 2024 |
PIK3CA overgrowth syndrome | 2 | Aug 20, 2024 |
PIK3CA related overgrowth syndrome | 8 | Sep 17, 2024 |
PMP22-RAI1 contiguous gene duplication syndrome | 1 | Aug 31, 2022 |
PTEN hamartoma tumor syndrome | 1 | May 16, 2022 |
Parkes Weber syndrome | 1 | May 16, 2022 |
Penoscrotal transposition | 1 | Feb 1, 2022 |
Persistent Mullerian duct syndrome | 3 | Oct 31, 2023 |
Peutz-Jeghers syndrome | 1 | Aug 31, 2022 |
Pfeiffer syndrome | 1 | Mar 27, 2023 |
Phelan-McDermid syndrome | 2 | Aug 31, 2022 |
Phimosis | 1 | Feb 1, 2022 |
Piebaldism | 1 | Aug 31, 2022 |
Pitt-Hopkins syndrome | 1 | Sep 17, 2024 |
Polydactyly | 2 | Aug 31, 2022 |
Potocki-Lupski syndrome | 2 | Aug 31, 2022 |
Potocki-Shaffer syndrome | 1 | Aug 31, 2022 |
Prader-Willi syndrome | 1 | Aug 31, 2022 |
Progressive myositis ossificans | 1 | May 16, 2022 |
Proximal 16p11.2 microdeletion syndrome | 6 | Aug 31, 2022 |
Pure gonadal dysgenesis 46,XY | 2 | Jan 29, 2024 |
Respiratory failure | 2 | Feb 1, 2022 |
Rett syndrome | 3 | Mar 13, 2023 |
Ring chromosome 7 | 1 | Aug 31, 2022 |
Saethre-Chotzen syndrome | 1 | Aug 31, 2022 |
See cases | 13 | Aug 22, 2022 |
Seizure | 3 | Aug 31, 2022 |
Septo-optic dysplasia sequence | 1 | Oct 31, 2023 |
Severe combined immunodeficiency disease | 1 | Aug 31, 2022 |
Severe combined immunodeficiency due to DCLRE1C deficiency | 1 | Aug 31, 2022 |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 2 | Sep 17, 2024 |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 1 | Oct 31, 2023 |
Short stature | 1 | Aug 31, 2022 |
Simpson-Golabi-Behmel syndrome type 1 | 1 | Aug 31, 2022 |
Smith-Magenis syndrome | 2 | Aug 31, 2022 |
Specific learning disability | 1 | Aug 31, 2022 |
Surfactant metabolism dysfunction, pulmonary, 2 | 1 | Oct 31, 2023 |
Syndromic X-linked intellectual disability Lubs type | 1 | Aug 31, 2022 |
TCF12-related craniosynostosis | 1 | Sep 17, 2024 |
TWIST1-related craniosynostosis | 1 | Oct 31, 2023 |
Teebi hypertelorism syndrome 1 | 1 | Oct 31, 2023 |
Telangiectasia, hereditary hemorrhagic, type 1 | 3 | Oct 31, 2023 |
Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Sep 17, 2024 |
Telangiectasia, hereditary hemorrhagic, type 5 | 1 | Aug 31, 2022 |
Tetrasomy 9p | 1 | Aug 31, 2022 |
Thrombocytopenia 1 | 1 | Sep 17, 2024 |
Trichorhinophalangeal dysplasia type I | 1 | Aug 31, 2022 |
Trisomy 18 | 1 | Aug 31, 2022 |
Trisomy X syndrome | 1 | Aug 31, 2022 |
Turner syndrome | 5 | Aug 31, 2022 |
Type 2 diabetes mellitus | 1 | Mar 17, 2022 |
Vascular malformation | 2 | Jan 30, 2024 |
Venous malformation | 2 | Jul 6, 2021 |
Verrucous hemangioma | 1 | May 16, 2022 |
Visceral myopathy 1 | 4 | Sep 17, 2024 |
Visceral myopathy 2 | 1 | Sep 17, 2024 |
Waardenburg syndrome type 1 | 1 | Aug 31, 2022 |
Williams syndrome | 10 | Aug 31, 2022 |
X-linked agammaglobulinemia | 1 | Sep 17, 2024 |
X-linked ichthyosis with steryl-sulfatase deficiency | 1 | Aug 31, 2022 |
Xq25 microduplication syndrome | 2 | Aug 31, 2022 |
not provided | 129 | Sep 17, 2024 |