autosomal recessive cerebellar ataxia
Findings
No curated finding names autosomal recessive cerebellar ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.
Definition from the Mondo Disease Ontology (MONDO:0015244), read 2026-09-29. CC BY 4.0.
Genes
2 genes
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
- Narrower terms (29)
- ataxia with oculomotor apraxia type 3
- autosomal recessive ataxia due to ubiquinone deficiency
- autosomal recessive ataxia, Beauce type
- autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
- autosomal recessive congenital cerebellar ataxia
- autosomal recessive degenerative and progressive cerebellar ataxia
- autosomal recessive metabolic cerebellar ataxia
- autosomal recessive spinocerebellar ataxia 10
- autosomal recessive spinocerebellar ataxia 14
- autosomal recessive spinocerebellar ataxia 16
- autosomal recessive spinocerebellar ataxia 20
- autosomal recessive spinocerebellar ataxia 7
- autosomal recessive syndromic cerebellar ataxia
- Charlevoix-Saguenay spastic ataxia
- infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Other names
2 names
Resolves to: autosomal recessive cerebellar ataxia
- Also called
- ARCAcerebellar ataxia, autosomal recessive