cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Findings

No curated finding names cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

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 4

Also called

ATP8A2 dysequilibrium syndromecerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4dysequilibrium syndrome caused by mutation in ATP8A2