congenital disorder of glycosylation type 1E
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017749
disorder of multiple glycosylation
is_a
CDG 1E
related
CDG syndrome type Ie
exact
CDG-Ie
exact
CDG1E
exact
CDGIe
exact
DPM1 congenital disorder of glycosylation
exact
DPM1-CDG (CDG-Ie)
related
Dol-P-mannosyltransferase deficiency
exact
carbohydrate deficient glycoprotein syndrome type Ie
exact
carbohydrate-deficient glycoprotein syndrome type 1E
related
congenital disorder of glycosylation caused by mutation in DPM1
exact
congenital disorder of glycosylation type 1E
exact
congenital disorder of glycosylation type 1e
exact
congenital disorder of glycosylation type Ie
exact
congenital disorder of glycosylation, type Ie
related
SPAC31G5.16c