"OMIM:614961"^^ . . "pontocerebellar hypoplasia type 8"^^ . "NT MGI."^^ . "ICD10CM:Q04.3"^^ . "emitraka"^^ . . "2015-02-04T14:28:28Z"^^ . "ORDO:324569"^^ . . "disease_ontology"^^ . "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."^^ . . "DOID:0060277"^^ .