GTR Home > Conditions/Phenotypes > Congenital disorder of glycosylation type 2C

Disease characteristics

Excerpted from the GeneReview: Congenital Disorders of N-linked Glycosylation Pathway Overview
Congenital disorders of N-linked glycosylation (abbreviated here as CDG-N-linked), are a group of disorders of N-linked oligosaccharides caused by deficiency in 42 different enzymes in the N-linked synthetic pathway. Most commonly, the disorders begin in infancy; manifestations range from severe developmental delay and hypotonia with multiple organ system involvement to hypoglycemia and protein-losing enteropathy with normal development. However, most types have been described in only a few individuals, and thus understanding of the phenotypes is limited. In PMM2-CDG (CDG-Ia), the most common type reported, the clinical presentation and course are highly variable, ranging from death in infancy to mild involvement in adults.

Available tests

18 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

Clinical features

  • Intellectual disability, severe
  • Short stature
  • Microcephaly
  • Intellectual disability, progressive
  • Seizure
  • Otitis media
  • Periodontitis
  • Muscular hypotonia
  • Abnormality of the integument
  • Abnormality of metabolism/homeostasis
  • Pneumonia
  • Cerebral cortical atrophy
  • Reduction of neutrophil motility
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