For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
POLR1D | monoallelic_autosomal | absent gene product | POLR1D-related TREACHER COLLINS SYNDROME TYPE 2 | DD,Skeletal |