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Up to: Hereditary neurological disease · Developmental anomaly of metabolic origin · Congenital nervous system disorder · Central nervous system malformation · Disorder of multiple glycosylation · Congenital disorder of glycosylation type II
B4GALT1-congenital disorder of glycosylation
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.
This condition has no sub-types.