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Stankiewicz-Isidor syndrome

Summary

Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017). [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: Rpn5, STISS, p55, PSMD12
    Summary: proteasome 26S subunit, non-ATPase 12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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