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GTR Home > Conditions/Phenotypes > Kury-Isidor syndrome

Kury-Isidor syndrome

Summary

Kury-Isidor syndrome (KURIS) is a neurodevelopmental disorder with a highly variable phenotype. It is characterized mainly by mild global developmental delay apparent from infancy or early childhood with walking delayed by a few years and speech delay, often with language deficits. Intellectual development may be mildly delayed, borderline, or even normal; most patients have behavioral problems, including autism. Additional variable systemic features may include poor overall growth, hypotonia, distal skeletal anomalies, seizures, and nonspecific dysmorphic facial features (summary by Kury et al., 2022). [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: HUCEP-13, KURIS, TPDS1, UBM2, UCHL2, UVM2, hucep-6, BAP1
    Summary: BRCA1 associated protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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