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Hereditary hollow viscus myopathy

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Description

A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.

SNOMEDCT_US

  • Mode of Inheritance

    VARIANTS

    0

    Genes

    External Links

    • OMIM
    • Orphanet

      2604

    • HPO
    • Medgen

      C0266833

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