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Pierpont syndrome

Summary

Pierpont syndrome (PRPTS) is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C21, DC42, IRA1, MRD41, TBLR1, TBL1XR1
    Summary: TBL1X/Y related 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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