DYRK1A-related intellectual disability syndrome

Findings

No curated finding names DYRK1A-related intellectual disability syndrome 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

Congenital onset · 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 syndromic intellectual disability
• congenital nervous system disorder
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Narrower terms (2)

• DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• intellectual disability syndrome due to a DYRK1A point mutation

Resolves to: DYRK1A-related intellectual disability syndrome

Also called

autosomal dominant intellectual disability 7intellectual disability, autosomal dominant type 7mental retardation, autosomal dominant type 7MRD7