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Cole-Carpenter syndrome 1

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.

Synonyms

  • CLCRP1
  • COLE-CARPENTER syndrome 1
  • Cole-Carpenter syndrome 1
  • Cole-Carpenter syndrome caused by mutation in P4HB
  • Cole-Carpenter syndrome type 1
  • P4HB Cole-Carpenter syndrome
  • bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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