For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
CRYGB | monoallelic_autosomal | uncertain | CRYGB-related Cataract 39, multiple types, autosomal dominant | Eye |