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 |
|---|---|---|---|---|---|
| XYLT1 | biallelic_autosomal | absent gene product | XYLT1-related DESBUQUOIS DYSPLASIA 2 | DD,Skeletal | |
| XYLT1 | biallelic_autosomal | cis-regulatory or promotor mutation | XYLT1-related Baratela Scott Syndrome | DD,Skeletal |