For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
PIGU | biallelic_autosomal | altered gene product structure | PIGU-related Intellectual Disability, Central Nervous System anomalies and Scoliosis | DD |