Mowat-Wilson syndrome

Findings

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

Definition

Inheritance

Autosomal dominant inheritance

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

• autosomal dominant syndromic intellectual disability
• congenital nervous system disorder
• monogenic epilepsy
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Narrower terms (2)

• Mowat-Wilson syndrome due to a ZEB2 point mutation
• Mowat-Wilson syndrome due to monosomy 2q22

Resolves to: Mowat-Wilson syndrome

Also called

Hirschsprung disease intellectual disability syndromeHirschsprung disease-intellectual disability syndromemicrocephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease