Variants
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Hereditary spastic paraplegia 43

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Description

Spastic paraplegia-43 (SPG43) is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive spasticity affecting the lower and upper limbs (summary by Meilleur et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800.

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

28

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Genes

External Links

  • OMIM

    615043

  • Orphanet

    320370

  • HPO
  • Medgen

    C2680446

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