has material basis in germline mutation in disease has major feature LAMA1 syndromic intellectual disability ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/poretti_boltshauser_syndrome OMIM:615960 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. UMLS:C4014821 GARD:0017597 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome PTBHS MEDGEN:863258 Poretti-Boltshauser syndrome Orphanet:370022 PORETTI-Boltshauser syndrome central nervous system malformation hereditary neurological disease