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 |
|---|---|---|---|---|---|
| IRF6 | monoallelic_autosomal | absent gene product | IRF6-related VAN DER WOUDE SYNDROME | DD,Skin | |
| IRF6 | monoallelic_autosomal | altered gene product structure | IRF6-related POPLITEAL PTERYGIUM SYNDROME | DD,Skin |