Cole-Carpenter syndrome 1

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

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

39 clinical trials for this condition and its sub-types.