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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 53

Hereditary spastic paraplegia 53

Synonyms
Spastic paraplegia 53, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

SPG53 is an autosomal recessive neurologic disorder characterized by onset in infancy of delayed motor development progressing to upper and lower limb spasticity with impaired walking. Affected individuals also show mild to moderate cognitive impairment (summary by Zivony-Elboum et al., 2012). [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HCRP1, PQBP2, SPG53, VPS37A
    Summary: VPS37A subunit of ESCRT-I

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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