congenital disorder of glycosylation If (DOID:0080558)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1f
Alt IDs: OMIM:609180, ORDO:79323
Definition: A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13.