For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
SELENOI | biallelic_autosomal | absent gene product | SELENOI-related EPT1-related complex progressive hereditary spastic paraplegia | DD |