For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
CABP4 | biallelic_autosomal | absent gene product | CABP4-related Cone-rod synaptic disorder, congenital nonprogressive | Eye |