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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0005501
congenital disorder of glycosylation type II
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017749
disorder of multiple glycosylation
is_a
MONDO:0020022
central nervous system malformation
is_a
MONDO:0100545
hereditary neurological disease
is_a
B4GALT1-CDG
exact
B4GALT1-CDG (CDG-IId)
related
B4GALT1-congenital disorder of glycosylation
exact
Beta-1,4-galactosyltransferase deficiency
exact
CDG 2D
related
CDG syndrome type IId
exact
CDG-IId
exact
CDG2D
exact
carbohydrate deficient glycoprotein syndrome type IId
exact
congenital disorder of glycosylation type 2d
exact
congenital disorder of glycosylation type IId
exact
congenital disorder of glycosylation, type IId
related