cerebellar ataxia, intellectual disability, and dysequilibrium
Findings
No curated finding names cerebellar ataxia, intellectual disability, and dysequilibrium yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.
Definition from the Mondo Disease Ontology (MONDO:0009133), read 2026-09-29. CC BY 4.0.
Features
14 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
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Frequent (30% to 79% of cases)
- Cerebral palsyHPOHP:0100021
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- Abnormality of the eyeHPOHP:0000478
- Occasional (5% to 29% of cases)
Show the remaining 2
- Abnormality of visionHPOHP:0000504
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
Genes
6 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.
- ATP8A2HGNC:13533
- Definitive · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- CA8HGNC:1382
- Supportive · Orphanet · Autosomal recessive · 2021
- TUBB2BHGNC:30829
- Supportive · Orphanet · Autosomal recessive · 2021
- VLDLRHGNC:12698
- Supportive · Orphanet · Autosomal recessive · 2021
- WDR81HGNC:26600
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (4)
Other names
7 names
Resolves to: cerebellar ataxia, intellectual disability, and dysequilibrium
- Also called
- CAMRQ syndromecerebellar ataxia-intellectual disability-dysequilibrium syndrome syndromecerebellar ataxia, mental retardation and dysequlibrium syndromecerebellar ataxia, mental retardation, and dysequilibriumdialysis dysequilibrium syndromedysequilibrium syndromenon-progressive cerebellar ataxia-intellectual disability syndrome