autosomal recessive spinocerebellar ataxia 15

Findings

No curated finding names autosomal recessive spinocerebellar ataxia 15 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 · Progressive

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 cerebellar ataxia - epilepsy - intellectual disability syndrome

Resolves to: autosomal recessive spinocerebellar ataxia 15

Also called

autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCNautosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCNautosomal recessive spinocerebellar ataxia type 15RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndromeRUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndromeSCAR15spinocerebellar ataxia, autosomal recessive type 15