GTR Home > Conditions/Phenotypes > Spastic paraplegia, intellectual disability, nystagmus, and obesity

Spastic paraplegia, intellectual disability, nystagmus, and obesity

Synonyms
Spastic paraplegia, intellectual disability, nystagmus, and obesity;
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARMS, SINO, VENARG, KIDINS220
    Summary: kinase D interacting substrate 220

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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