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