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 |
|---|---|---|---|---|---|
| SETD2 | monoallelic_autosomal | absent gene product | SETD2-associated Overgrowth Syndrome (Luscan-Lumish syndrome) | DD | |
| SETD2 | monoallelic_autosomal | altered gene product structure | SETD2-related Rabin-Pappas syndrome | DD |