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Rabin-Pappas syndrome

Summary

Rabin-Pappas syndrome (RAPAS) is a multisystemic disorder characterized by severely impaired global development apparent from infancy, feeding difficulties with failure to thrive, small head circumference, and dysmorphic facial features. Affected individuals have impaired intellectual development and hypotonia; they do not achieve walking or meaningful speech. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and possibly endocrine (Rabin et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A, LLS, MRD70, RAPAS, SET2, p231HBP, SETD2
    Summary: SET domain containing 2, histone lysine methyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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