4.2.e

Disorders of organelle interplay

  • EMC1 deficiency
  • Acyl-CoA-binding domain-containing protein 5 deficiency
  • BAP31 deficiency (Deafness, dystonia, and cerebral hypomyelination)
  • VAPB deficiency
  • Ceramide transfer protein superactivity (Autosomal dominant intellectual disability type 34)
  • Choreoacanthocytosis
  • Cohen syndrome
  • VPS13C deficiency (Autosomal recessive Parkinson disease type 23)
  • VPS13D deficiency (Autosomal recessive spinocerebellar ataxia type 4)

Subnetworks

CDG 1 1

CDG

Congenital disorders of glycosylation and disorders of intracellular trafficking

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