OBO ID: DOID:0111839
Term Name: congenital disorder of glycosylation Icc Search Ontology:
Synonyms:
  • congenital disorder of glycosylation type Icc
Definition: A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1. https://www.ncbi.nlm.nih.gov/pubmed/31036665
References:
Ontology: Human Disease   ( DOID:0111839 )
OTHER congenital disorder of glycosylation Icc PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MAGT1 Congenital disorder of glycosylation, type Icc 301031
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None