For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
TMEM240 | monoallelic_autosomal | absent gene product | TMEM240-associated spinocerebellar ataxia and intellectual disability | DD |