has material basis in germline mutation in COG8 congenital disorder of glycosylation type II COG8-congenital disorder of glycosylation https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_iih CDG-IIh congenital disorder of glycosylation type 2h DOID:0070260 MEDGEN:409971 OMIM:611182 COG8-congenital disorder of glycosylation UMLS:C1970021 COG8-CDG SCTID:717774004 carbohydrate deficient glycoprotein syndrome type IIh MONDO:0012635 COG8-CDG (CDG-IIh) congenital disorder of glycosylation, type IIh The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. MESH:C566987 congenital disorder of glycosylation type IIh GARD:0012411 CDG IIh CDG syndrome type IIh Orphanet:95428 CDG2H defect in conserved oligomeric Golgi complex