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 |
|---|---|---|---|---|---|
| POLG | biallelic_autosomal | altered gene product structure | POLG-related MITOCHONDRIAL DNA DEPLETION SYNDROME 4A | DD,Eye | |
| POLG | biallelic_autosomal | absent gene product | POLG-related Mitochondrial recessive ataxia syndrome | Eye | |
| POLG | monoallelic_autosomal | altered gene product structure | POLG-related Progressive external ophthalmoplegia, autosomal dominant 1 | Eye |