congenital disorder of glycosylation Iu

Term ID

DOID:0080571

Synonyms

• 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

• GARD:12416
• OMIM:615042
• ORDO:329178

Ontology

Human Disease   ( DOID:0080571 )