For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
TRIM32 | biallelic_autosomal | absent gene product | TRIM32-related LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H | DD | |
TRIM32 | biallelic_autosomal | uncertain | TRIM32-related BARDET-BIEDL SYNDROME TYPE 11 | DD,Eye |