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ALG9-CDG

Disease definition

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. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ORPHA:79328

Classification level: Disorder
  • 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
  • ICD-11: 5C54.0
  • OMIM: 263210  608776
  • UMLS: C2931006
  • MeSH: -
  • GARD: 9839
  • MedDRA: -

  A summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016) Deutsch (2006) Français (2006)

Detailed information

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.