For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
MAP2K1 | monoallelic_autosomal | altered gene product structure | MAP2K1-related CARDIOFACIOCUTANEOUS SYNDROME | DD |