OBO ID: DOID:0111839 |
Term Name: | congenital disorder of glycosylation Icc | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111839 ) |
OTHER congenital disorder of glycosylation Icc PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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