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Human Disease
congenital disorder of glycosylation Iu
- Term ID
- DOID:0080571
- Synonyms
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- congenital disorder of glycosylation 1u
- 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
- References
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- GARD:12416
- MIM:615042
- ORDO:329178
- Ontology
- Human Disease ( DOID:0080571 )
- is a type of
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