Koolen-de Vries syndrome

Findings

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

Definition

Inheritance

Autosomal dominant inheritance · Contiguous gene syndrome

HPO, annotations 2026-09-02

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

• hereditary disease
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Narrower terms (2)

• Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome
• Koolen-de Vries syndrome due to a point mutation

Resolves to: Koolen-de Vries syndrome

Also called

chromosome 17q21.31 deletion syndromeKANSL1-related intellectual disability syndromeKDVSKoolen de Vries syndromemicrodeletion 17q21.31 syndrome