"emitraka"^^ . _:vb50938563 . "OMIM:607596"^^ . "2015-02-04T14:28:28Z"^^ . "ORDO:2254"^^ . "pontocerebellar hypoplasia type 1A"^^ . "A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene."^^ . "DOID:0060265"^^ . "NT MGI."^^ . _:vb50938563 . . . . . _:vb50938563 . _:vb50938563 . _:vb50938563 . . "disease_ontology"^^ .