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Maple syrup urine disease type 1B

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Description

A maple syrup urine disease caused by mutations in BCKDHB.

MONDO

  • Mode of Inheritance

    VARIANTS

    55

    SEE THE VARIANTS →

    Genes

    • BCKDHB

    External Links

    • OMIM
    • Orphanet
    • HPO
    • Medgen

      C2930990

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