DO_rare_slim has symptom disease has feature cerebellar hyplasia/atrophy, epilepsy, and global developmental delay A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. ORDO:2246 DOID:0070339 MIM:213000 disease_ontology intellectual disability syndrome nystagmus