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GTR Home > Conditions/Phenotypes > Spastic paraplegia 89, autosomal recessive

Spastic paraplegia 89, autosomal recessive

Summary

Autosomal recessive spastic paraplegia-89 (SPG89) is characterized by symptom onset in the first years of life. Affected individuals show delayed motor development with abnormal spastic gait and hyperreflexia of the lower limbs. Some patients may have mildly impaired intellectual development or learning difficulties (Deng 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: GP78, RNF45, SPG89, AMFR
    Summary: autocrine motility factor receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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