ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0020022
central nervous system malformation
is_a
MONDO:0100545
hereditary neurological disease
is_a
PORETTI-Boltshauser syndrome
related
PTBHS
related
Poretti-Boltshauser syndrome
exact
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
exact