Cayman type cerebellar ataxia
Findings
No curated finding names Cayman type cerebellar ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cerebellar ataxia, Cayman type is characterized by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.
Definition from the Mondo Disease Ontology (MONDO:0011025), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
20 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
- 5 of 5 reported patients
- Cerebellar atrophyHPOHP:0001272
- 5 of 5 reported patients
- Gait ataxiaHPOHP:0002066
- 15 of 15 reported patients
- Frequent (30% to 79% of cases)
- Hypomimic faceHPOHP:0000338
- 5 of 5 reported patients
- Pes planusHPOHP:0001763
- 5 of 5 reported patients
- Nonprogressive cerebellar ataxiaHPOHP:0002470
- Very frequent (80% to 99% of cases)
- StrabismusHPO
Show the remaining 8
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Intention tremorHPOHP:0002080
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- 3 of 5 reported patients
- Truncal ataxiaHPOHP:0002078
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- 2 of 5 reported patients
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.
- ATCAYHGNC:779
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Cayman type cerebellar ataxia
- Also called
- ataxia, cerebellar, Cayman typeCayman ataxia