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 |
|---|---|---|---|---|---|
| ABCC6 | biallelic_autosomal | absent gene product | ABCC6-related ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 | DD,Skin | |
| ABCC6 | biallelic_autosomal | absent gene product | ABCC6-related PSEUDOXANTHOMA ELASTICUM | Eye |