Koolen-de Vries syndrome due to a point mutation

Findings

No curated finding names Koolen-de Vries syndrome due to a point mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• Koolen-de Vries syndrome