Traduction de «Congenitaal defect in glycosylering type IId » (Néerlandais → Anglais) :

congenitaal defect in glycosylering type IId
A congenital disorder of glycosylation with characteristics of 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 mutat

congenitaal defect in glycosylering type 1A
Congenital disorder of glycosylation type Ia

congenitaal defect van glycosylering type 1E
Congenital disorder of glycosylation, type IE