For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
CDC40 | biallelic_autosomal | altered gene product structure | CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly | DD |