For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
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For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
| Gene symbol | Genotype | Mutation consequence | Disease | Panel |
|---|---|---|---|---|
| ZIC3 | hemizygous | all missense/in frame | VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS | |
| ZIC3 | hemizygous | loss of function | HETEROTAXY SYNDROME |