ocular motor apraxia, Cogan type
Findings
No curated finding names ocular motor apraxia, Cogan type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.
Definition from the Mondo Disease Ontology (MONDO:0009764), read 2026-09-29. CC BY 4.0.
Features
15 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)
- Oculomotor apraxiaHPOHP:0000657
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the cerebellar vermisHPOHP:0006817
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Impaired horizontal smooth pursuitHPOHP:0001151
- Frequent (30% to 79% of cases)
- Jerky head movementsHPOHP:0006961
- Frequent (30% to 79% of cases)
Show the remaining 3
- NystagmusHPOHP:0000639
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- StrabismusHPOHP:0000486
- 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.
- SUFUHGNC:16466
- Strong · Franklin by Genoox · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: ocular motor apraxia, Cogan type
- Also called
- oculomotor apraxia, Cogan typeoculomotor apraxia, congenital, Cogan-type