neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Findings

No curated finding names neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Infantile onset

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 non-syndromic intellectual disability

Resolves to: neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Also called

autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2Cintellectual disability, autosomal dominant 20intellectual disability, autosomal dominant type 20MEF2C autosomal dominant non-syndromic intellectual disabilityMEF2C DeficiencyMEF2C haploinsufficiency syndrome (MCHS)MEF2C-related neurodevelopmental disorderMEF2C-related syndromemental retardation, autosomal dominant 20mental retardation, autosomal dominant type 20MRD20