ALG11-congenital disorder of glycosylation
A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
ALG11-CDG
exact
ALG11-CDG (CDG-Ip)
related
ALG11-congenital disorder of glycosylation
exact
CDG syndrome type Ip
exact
CDG-Ip
exact
CDG1P
exact
carbohydrate deficient glycoprotein syndrome type Ip
exact
congenital disorder of glycosylation type 1p
exact
congenital disorder of glycosylation type Ip
exact
congenital disorder of glycosylation, type Ip
related
SPCC330.08