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 | Panel |
|---|---|---|---|---|
| RECQL4 | biallelic | loss of function | ROTHMUND-THOMSON SYNDROME | |
| RECQL4 | biallelic | loss of function | BALLER-GEROLD SYNDROME | |
| RECQL4 | biallelic | loss of function | ROTHMUND-THOMSON SYNDROME | |
| RECQL4 | biallelic | loss of function | BALLER-GEROLD SYNDROME |