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 |
|---|---|---|---|---|---|
| OXR1 | biallelic_autosomal | absent gene product | OXR1-related Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction | DD |