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

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Associated genes

Clinical features

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  • 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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