Disease & disorder

ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

MONDO:0014419

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.

Outbreak surveillance

Global reported events

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Clinical trials0
Recruiting0
Drug concepts studied0
Synonyms4
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Background context

ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.