For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
| Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
|---|---|---|---|---|---|
| POMGNT1 | biallelic_autosomal | absent gene product | POMGNT1-related MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3) | DD | |
| POMGNT1 | biallelic_autosomal | uncertain | POMGNT1-related MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 | DD | |
| POMGNT1 | biallelic_autosomal | absent gene product | POMGNT1-related MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH INTELLECTUAL DEVELOPMENTAL DISORDER TYPE B3 | Eye |