. _:vb50941217 . . _:vb50941216 . "A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34."^^ . "ORDO:329178"^^ . _:vb50941216 . _:vb50941217 . . _:vb50941217 . "congenital disorder of glycosylation Iu"^^ . _:vb50941217 . . "OMIM:615042"^^ . "GARD:12416"^^ . "congenital disorder of glycosylation 1u"@en . _:vb50941216 . _:vb50941216 . _:vb50941217 . _:vb50941216 . "DOID:0080571"^^ . "disease_ontology"^^ .