intellectual disability, autosomal recessive 53

Findings

No curated finding names intellectual disability, autosomal recessive 53 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 · Fetal 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 syndromic intellectual disability
• congenital nervous system disorder
• inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
• syndromic dyslipidemia

Resolves to: intellectual disability, autosomal recessive 53

Also called

congenital disorder of glycosylation due to PIGG deficiencyearly-onset epilepsy-intellectual disability-brain anomalies syndromeglycosylphosphatidylinositol biosynthesis defect 13GPIBD13intellectual developmental disorder, autosomal recessive 53intellectual disability, autosomal recessive type 53mental retardation, autosomal recessive 53mental retardation, autosomal recessive type 53MRT53PIGG-CDG