ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Findings
No curated finding names ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.
Definition from the Mondo Disease Ontology (MONDO:0014419), read 2026-09-29. CC BY 4.0.
Features
23 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)
- Cerebellar cystHPOHP:0002350
- Very frequent (80% to 99% of cases)
- Cerebellar dysplasiaHPOHP:0007033
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Dilated fourth ventricleHPOHP:0002198
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
Show the remaining 11
- Oculomotor apraxiaHPOHP:0000657
- Frequent (30% to 79% of cases)
- Retinal atrophyHPOHP:0001105
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Occasional (5% to 29% of cases)
- Head titubationHPOHP:0002599
- Occasional (5% to 29% of cases)
- HypermetropiaHPOHP:0000540
- Occasional (5% to 29% of cases)
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.
- LAMA1HGNC:6481
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
- Also called
- Poretti-Boltshauser syndrome