RUNX2 and cleidocranial dysplasia 1: The patient was confirmed to have cleidocranial dysplasia with a de novo missense mutation, c.578G>A (p.R193Q), in RUNX2. Patient K4 displayed dysmorphic facial features, such as hypertelorism, epicanthal fold, broad nose, anteverted nares, short philtrum, large mouth, thick/everted lips, large ears, thoracolumbar spondylosis, pectus excavatum, speech delay, and severe ID.