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ALG9-CDG

Disease definition

ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ORPHA:79328

  • Synonym(s):
    • CDG syndrome type IL
    • CDG-IL
    • CDG1L
    • Carbohydrate deficient glycoprotein syndrome type IL
    • Congenital disorder of glycosylation type 1L
    • Mannosyltransferase 7-9 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 263210  608776
  • UMLS: C2931006
  • MeSH: -
  • GARD: 9839
  • MedDRA: -

Detailed information

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