Human genes for congenital disorder of glycosylation Id
Congenital disorder of glycosylation Id [DOID:0080556]
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.
Synonyms: congenital disorder of glycosylation Id, congenital disorder of glycosylation Ids, DOID:0080556, congenital disorder of glycosylation 1d