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Metadata
ID	DOID:0080571
Name	congenital disorder of glycosylation Iu
Definition	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. https://www.ncbi.nlm.nih.gov/pubmed/23109149
Xrefs	GARD:12416 MIM:615042 ORDO:329178
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1u [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I