congenital disorder of glycosylation Id (DOID:0080556)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1d
Alt IDs: OMIM:601110, ORDO:79321
Definition: A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.