For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
FARS2 | biallelic_autosomal | absent gene product | Neurometabolic disorder due to FARS2 deficiency | DD |