Variants
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Congenital bile acid synthesis defect 6

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Description

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.

MONDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

4

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Genes

External Links

  • OMIM

    617308

  • Orphanet
  • HPO
  • Medgen

    C4310624

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