cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Findings

No curated finding names cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 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

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

• cerebellar ataxia, intellectual disability, and dysequilibrium

Resolves to: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Also called

cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1dysequilibrium syndrome caused by mutation in VLDLRVLDLR dysequilibrium syndrome