Spastic paraplegia, intellectual disability, nystagmus, and obesity;
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Sign InDescription
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).
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
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