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ZIRC
OBO ID: DOID:0080571
Term Name: congenital disorder of glycosylation Iu Search Ontology:
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:
Ontology: Human Disease   (DOID:0080571)
OTHER congenital disorder of glycosylation Iu PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DPM2 Congenital disorder of glycosylation, type Iu 615042
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None