For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
MAST3 | monoallelic_autosomal | altered gene product structure | MAST3-related developmental and epileptic encephalopathy | DD |