For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
CACNA1F | monoallelic_X_hem | absent gene product | CACNA1F-related Aland Island eye disease | Eye |