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Cole-Carpenter syndrome 1

MONDO:0007204

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

0 clinical trials for this condition and its sub-types, 0 tagged with Cole-Carpenter syndrome 1 itself.

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↑ Osteogenesis imperfecta and a reduction of bone mineral density. (307) ↑ Cole-Carpenter syndrome (0)

Including sub-types (0) Tagged with Cole-Carpenter syndrome 1 (0)

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