For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
CCDC88C | biallelic_autosomal | absent gene product | CCDC88C-related HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE | DD |