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Metadata
ID DOID:0111839
Name congenital disorder of glycosylation 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 MAGT1 on chromosome Xq21.1.
https://www.ncbi.nlm.nih.gov/pubmed/31036665
Xrefs

OMIM:301031

Synonyms

congenital disorder of glycosylation type Icc [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a congenital disorder of glycosylation type I

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