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GTR Home > Conditions/Phenotypes > Spastic paraplegia 90B, autosomal recessive

Spastic paraplegia 90B, autosomal recessive

Summary

Autosomal recessive spastic paraplegia-90B (SPG90B) is characterized by motor impairment and progressive lower extremity spasticity as well as neurologic findings, cognitive impairment, and hearing loss (Srivastava et al., 2023). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C14orf147, SPG90A, SPG90B, SSSPTA, SPTSSA
    Summary: serine palmitoyltransferase small subunit A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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