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GTR Home > Conditions/Phenotypes > Cole-Carpenter syndrome 1

Cole-Carpenter syndrome 1

Synonyms
Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Summary

Cole-Carpenter syndrome is characterized by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features (Cole and Carpenter, 1987). Genetic Heterogeneity of Cole-Carpenter Syndrome Cole-Carpenter syndrome-2 (CLCRP2; 616294) is caused by mutation in the SEC24D gene (607186). [from OMIM]

Available tests

27 tests are in the database for this condition.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLCRP1, DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PHDB, PO4DB, PO4HB, PROHB, P4HB
    Summary: prolyl 4-hydroxylase subunit beta

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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