congenital disorder of glycosylation Iaa (DOID:0080553)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1aa
Alt IDs: OMIM:617082
Definition: A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22.