For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
monoallelic_autosomal
altered gene product structure
dominant negative
restricted repertoire of mutations
Panel | Confidence category |
---|---|
DD | definitive |
No comments have been assigned to the G2P entry yet.
No phenotypes have been assigned to the G2P entry yet.