has material basis in germline mutation in MPDU1 skin disorder congenital disorder of glycosylation type I MPDU1-congenital disorder of glycosylation https://github.com/monarch-initiative/mondo/issues/5682 https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_if GARD:0009832 CDG 1F Orphanet:79323 congenital disorder of glycosylation type 1f carbohydrate-deficient glycoprotein syndrome type 1F CDG If UMLS:C1836669 carbohydrate deficient glycoprotein syndrome type If The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. MPDU1-CDG (CDG-If) congenital disorder of glycosylation, type If DOID:0080558 SCTID:724096007 MEDGEN:322968 CDG syndrome type If CDGIf MONDO:0012211 CDG-If congenital disorder of glycosylation type If CDG1F NCIT:C126872 OMIM:609180 MESH:C535744 MPDU1-CDG disorder of multiple glycosylation