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Disease definition

A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles.


Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type IIL
    • CDG-IIL
    • CDG2L
    • Congenital disorder of glycosylation type 2l
    • Congenital disorder of glycosylation type IIL
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E77.8
  • OMIM: 614576
  • UMLS: C3553230
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Disease review articles

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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.