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 |
|---|---|---|---|---|---|
| HERC1 | biallelic_autosomal | absent gene product | HERC1-related MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION | DD |