15 In a study of 42 unrelated CCD patients, there was no phenotypic difference between patients with deletions or frameshifts and those with other intragenic variants in RUNX2, 16 whereas another study, with 24 unrelated Japanese patients, observed short stature to be much milder in the patients with the intact RHD domain than in those without. The gene discussed is RUNX2; the disease is cleidocranial dysplasia 1.