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 |
|---|---|---|---|---|---|
| KDM1A | monoallelic_autosomal | absent gene product,altered gene product structure | KDM1A-related GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome | Cancer | |
| KDM1A | monoallelic_autosomal | altered gene product structure | KDM1A-related Developmental delay and distinctive facial features | DD |