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 |
|---|---|---|---|---|---|
| PHF6 | monoallelic_X_het | absent gene product,altered gene product structure,decreased gene product level | PHF6-related BOERJESON-FORSSMAN-LEHMANN SYNDROME | DD |