_:vb50938582 . _:vb50938582 . _:vb50938582 . _:vb50938582 . _:vb50938582 "url:https://www.omim.org/entry/614961"^^ . _:vb50938582 . _:vb50938582 "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene."^^ .