Osteochondrodysplasia with thickened calvaria. Distinctive facial features. Sagittal & coronal CSS has been described in one individual (GeneReviews). ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
hypertrichotic osteochondrodysplasia - 239850 (Cantu syndrome)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ABCC9; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes hypertrichotic osteochondrodysplasia, Cantu syndrome 239850 for gene: ABCC9
gene: ABCC9 was added gene: ABCC9 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: ABCC9 was set to