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ALG13-CDG

Disease definition

ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

ORPHA:324422

  • Synonym(s):
    • CDG syndrome type Is
    • CDG-Is
    • CDG1S
    • Congenital disorder of glycosylation type 1s
    • Congenital disorder of glycosylation type Is
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 300884
  • UMLS: -
  • MeSH: -
  • GARD: 12401
  • MedDRA: -

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