/ALG11-congenital disorder of glycosylation

ALG11-congenital disorder of glycosylation

Rare Disease

MONDO:0013349

Also Known As

ALG11-CDGALG11-congenital disorder of glycosylationCDG syndrome type IpCDG-IpCDG1Pcarbohydrate deficient glycoprotein syndrome type Ipcongenital disorder of glycosylation type 1pcongenital disorder of glycosylation type IpALG11-CDG (CDG-Ip)congenital disorder of glycosylation, type Ip

Definition

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).