For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
SEPSECS | biallelic_autosomal | absent gene product | SEPSECS-related Pontocerebellar hypoplasia type 2D | DD |