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 |
|---|---|---|---|---|---|
| GCH1 | biallelic_autosomal | uncertain | GCH1-related GTP CYCLOHYDROLASE 1 DEFICIENCY | DD | |
| GCH1 | monoallelic_autosomal | uncertain | GCH1-related DYSTONIA TYPE 5 | DD |