autosomal recessive spinocerebellar ataxia 20

Findings

No curated finding names autosomal recessive spinocerebellar ataxia 20 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

Neonatal 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 cerebellar ataxia
• central nervous system malformation
• congenital nervous system disorder
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Resolves to: autosomal recessive spinocerebellar ataxia 20

Also called

autosomal recessive cerebellar ataxia caused by mutation in SNX14autosomal recessive spinocerebellar ataxia type 20intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndromeSCAR20SNX14 autosomal recessive cerebellar ataxiaspinocerebellar ataxia, autosomal recessive type 20