X-linked non progressive cerebellar ataxia
Findings
No curated finding names X-linked non progressive cerebellar ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.
Definition from the Mondo Disease Ontology (MONDO:0010404), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Neonatal onset · Nonprogressive
HPO, annotations 2026-09-02
Features
19 features
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.
- AtaxiaHPOHP:0001251
- 6 of 6 reported patients
- DysarthriaHPOHP:0001260
- 6 of 6 reported patients
- Motor delayHPOHP:0001270
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- 6 of 6 reported patients
- NystagmusHPOHP:0000639
- 6 of 6 reported patients
- Nonprogressive cerebellar ataxiaHPO
Genes
1 gene
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.
- ATP2B3HGNC:816
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: X-linked non progressive cerebellar ataxia
- Also called
- SCAX5spinocerebellar ataxia, X-linked 5, X-linked recessiveX-linked spinocerebellar ataxia type 5