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Spastic paraplegia, intellectual disability, nystagmus, and obesity;

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Description

Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

14

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Genes

External Links

  • OMIM

    617296

  • Orphanet

    521390

  • HPO
  • Medgen

    C4284592

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