has material basis in germline mutation in disease has major feature B4GALT1 congenital nervous system disorder congenital disorder of glycosylation type II B4GALT1-congenital disorder of glycosylation https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_iid congenital disorder of glycosylation type 2d B4GALT1-congenital disorder of glycosylation UMLS:C2931009 Orphanet:79332 Beta-1,4-galactosyltransferase deficiency CDG-IId B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. congenital disorder of glycosylation type IId CDG syndrome type IId SCTID:725587007 MESH:C535753 MEDGEN:419310 OMIM:607091 CDG IId B4GALT1-CDG (CDG-IId) GARD:0009841 CDG 2D DOID:0070256 CDG2D congenital disorder of glycosylation, type IId carbohydrate deficient glycoprotein syndrome type IId B4GALT1-CDG MONDO:0011772 developmental anomaly of metabolic origin disorder of multiple glycosylation central nervous system malformation hereditary neurological disease