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 |
|---|---|---|---|---|---|
| KCNQ2 | monoallelic_autosomal | absent gene product | KCNQ2-related BENIGN NEONATAL EPILEPSY TYPE 1 | DD | |
| KCNQ2 | monoallelic_autosomal | altered gene product structure | KCNQ2-related EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 | DD |