Variants
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COG7 congenital disorder of glycosylation

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Description

CDG IIe is caused by a mutation that impairs the integrity of the conserved oligomeric Golgi (COG) complex and alters Golgi trafficking, resulting in the disruption of multiple glycosylation pathways. For a general discussion of CDGs, see CDG1A (212065).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

103

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Genes

External Links

  • OMIM

    608779

  • Orphanet

    79333

  • HPO
  • Medgen

    C2931010

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