Term Name:	congenital disorder of glycosylation If
Synonyms:	congenital disorder of glycosylation 1f
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.
Ontology:	Human Disease [DOID:0080558]   ( DOID:0080558 )