"2015-02-04T14:28:28Z"^^ . "GARD:10708"^^ . . "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene."^^ . . "emitraka"^^ . "OMIM:608027"^^ . . "SNOMEDCT_US_2021_09_01:718609003"^^ . "pontocerebellar hypoplasia type 3"^^ . "NT MGI."^^ . "MESH:C548072"^^ . "UMLS_CUI:C1842687"^^ . "disease_ontology"^^ . . "DOID:0060272"^^ . "ORDO:97249"^^ .