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GTR Home > Conditions/Phenotypes > Combined immunodeficiency with faciooculoskeletal anomalies

Combined immunodeficiency with faciooculoskeletal anomalies

Synonyms
COMBINED IMMUNODEFICIENCY, FACIAL DYSMORPHISM, OPTIC NERVE ATROPHY, SKELETAL ANOMALIES, AND DEVELOPMENTAL DELAY; Roifman-Chitayat syndrome; Roifman-Chitayat syndrome, digenic

Summary

Roifman-Chitayat syndrome (ROCHIS) is an autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures, ataxia, and optic atrophy, dysmorphic facial features, distal skeletal anomalies, and combined immunodeficiency manifest as recurrent infections (summary by Sharfe et al., 2018). [from OMIM]

Available tests

3 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C15orf23, HSD11, ROCHIS, SKAP, TRAF4AF1, KNSTRN
    Summary: kinetochore localized astrin (SPAG5) binding protein

  • Also known as: APDS, IMD14, IMD14A, IMD14B, P110DELTA, PI3K, ROCHIS, p110D, PIK3CD
    Summary: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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