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#613443 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE; NEDHSIL
CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL, INCLUDED
Cytogenetic locations: 20513142
Gene summaries Genetic tests Medical literature
#612881 - CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL
Cytogenetic locations: Map1b
#610954 - PITT-HOPKINS SYNDROME; PTHS
Cytogenetic locations: 18728071
*602907 - CENTRIN 3; CETN3
Cytogenetic locations: -
*602851 - ADHESION G PROTEIN-COUPLED RECEPTOR V1; ADGRV1
Cytogenetic locations: Transforming
*600662 - MYOCYTE ENHANCER FACTOR 2C; MEF2C
Cytogenetic locations: 618214
#312750 - RETT SYNDROME; RTT
RETT SYNDROME, ZAPPELLA VARIANT, INCLUDED
Cytogenetic locations: 12344009
#300672 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2
Cytogenetic locations: 15492925
*300203 - CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5
Cytogenetic locations: 21748340
*300005 - METHYL-CpG-BINDING PROTEIN 2; MECP2
Cytogenetic locations: 17046689
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