intellectual disability, autosomal recessive 46

Findings

No curated finding names intellectual disability, autosomal recessive 46 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Infantile onset · Childhood 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 recessive non-syndromic intellectual disability

Resolves to: intellectual disability, autosomal recessive 46

Also called

autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1intellectual disability, autosomal recessive type 46mental retardation, autosomal recessive type 46NDST1 autosomal recessive non-syndromic intellectual disability