_:vb50940706 . _:vb50940706 . . _:vb50940706 . _:vb50940706 . "DOID:0080296"^^ . . "OMIM:617899"^^ . "A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13."^^ . . "disease_ontology"^^ . "hypomyelinating leukodystrophy 14"@en . _:vb50940706 . .