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 |
|---|---|---|---|---|---|
| EFTUD2 | monoallelic_autosomal | absent gene product | EFTUD2-related MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY | DD,Skeletal |