DeSanto-Shinawi syndrome

Findings

No curated finding names DeSanto-Shinawi syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

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

• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Narrower terms (2)

• DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion
• DeSanto-Shinawi syndrome due to WAC point mutation

Resolves to: DeSanto-Shinawi syndrome

Also called

WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome