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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

31 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Developmental defect during embryogenesis (7) Congenital disorder of glycosylation (6) Central nervous system malformation (5) Hereditary neurological disease (5)
Trials to join now! 17 Not yet recruiting 3 Not yet finished but already full! 3 Completed 8
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