For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
PLOD2 | biallelic_autosomal | absent gene product,altered gene product structure | PLOD2-related BRUCK SYNDROME TYPE 2 | DD,Skeletal |