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 |
|---|---|---|---|---|---|
| SIX1 | monoallelic_autosomal | absent gene product | SIX1-related Non-syndromic craniosynostosis | DD | |
| SIX1 | monoallelic_autosomal | altered gene product structure | SIX1-related BRANCHIOOTIC SYNDROME TYPE 3 | DD |