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ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Disease Summary
Associated Targets (1)


Explore Associated Targets
Mondo Description 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.
Uniprot Description An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis atrophy, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities including strabismus, ocular apraxia, nystagmus. Affected individuals have ataxia, delayed motor development, language impairment, and intellectual disability with variable severity.
Mondo Term and Equivalent IDs
MONDO:0014419:  ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found