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Parkinson disease 24, autosomal dominant, susceptibility to

Summary

Parkinson disease-24 (PARK24) is an autosomal dominant disorder characterized by classic Parkinson disease features, including adult onset, asymmetric limb involvement initially, and slowly progressive motor dysfunction. PARK24 shows incomplete penetrance, consistent with the presence of the PSAP mutation being a susceptibility factor for development of the disease (Oji et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see 168600. [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GLBA, PARK24, PSAPD, SAP1, SAP2, PSAP
    Summary: prosaposin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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