B4GALT1-congenital disorder of glycosylation

MONDO:0011772

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.

Also known as: B4GALT1-CDG, B4GALT1-congenital disorder of glycosylation, Beta-1,4-galactosyltransferase deficiency, CDG syndrome type IId, CDG-IId, CDG2D, carbohydrate deficient glycoprotein syndrome type IId, congenital disorder of glycosylation type 2d

1 clinical trial for this condition and its sub-types, 0 tagged with B4GALT1-congenital disorder of glycosylation itself.

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↑ Hereditary neurological disease (5791) ↑ Developmental anomaly of metabolic origin (384) ↑ Congenital nervous system disorder (287) ↑ Central nervous system malformation (51) ↑ Disorder of multiple glycosylation (9) ↑ Congenital disorder of glycosylation type II (3)

Including sub-types (1) Tagged with B4GALT1-congenital disorder of glycosylation (0)

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