ALG11-CDG

What is ALG11-CDG?

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 <i>ALG11</i> (13q14.3).

Other condition names

  • CDG syndrome type Ip
  • CDG-Ip
  • CDG1P
  • Carbohydrate deficient glycoprotein syndrome type Ip
  • Congenital disorder of glycosylation type 1p
  • Congenital disorder of glycosylation type Ip

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.