| 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 the MAGT1 gene on chromosome Xq21.1. https://www.ncbi.nlm.nih.gov/pubmed/31036665 |
| Xrefs | |
| Synonyms |
congenital disorder of glycosylation type Icc [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance disease has basis in some Abnormality of prenatal development or birth |