For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
IDH3B | biallelic_autosomal | absent gene product | IDH3B-related Retinitis pigmentosa 46 | Eye |