cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
Findings
No curated finding names cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene.
Definition from the Mondo Disease Ontology (MONDO:0013188), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
7 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
- 4 of 4 reported patients
- Cerebellar ataxia associated with quadrupedal gaitHPOHP:0009878
- 4 of 4 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 4 of 4 reported patients
- DysarthriaHPOHP:0001260
- Slurred speechHPOHP:0001350
- StrabismusHPOHP:0000486
- TremorHPOHP:0001337
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.
- CA8HGNC:1382
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
5 names
Resolves to: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
- Also called
- CA8 dysequilibrium syndromecerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3dysequilibrium syndrome caused by mutation in CA8