Variants
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DE SANCTIS-CACCHIONE SYNDROME

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Description

A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

NCI

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

69

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Genes

External Links

  • OMIM

    278800

  • Orphanet

    1569

  • HPO
  • Medgen

    C0265201

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