Variants
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Roussy-Lévy syndrome

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Description

Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life (Auer-Grumbach et al., 1998; Plante-Bordeneuve et al., 1999).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

48

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Genes

External Links

  • OMIM

    180800

  • Orphanet

    3115

  • HPO
  • Medgen

    C0205713

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