Blue sclerae, Brachydactyly, Carpal synostosis, Cleft palate, Clinodactyly, Clinodactyly of the 2nd finger, Clinodactyly of the 5th finger, Complete duplication of proximal phalanx of the thumb, Complete duplication of the middle phalanx of the 3rd finger, Cutaneous finger syndactyly, Deep philtrum, Diastema, Duplication of thumb phalanx, Global developmental delay, Growth delay, Highly arched eyebrow, Hitchhiker thumb, Hypertelorism, Hypodontia, Hypoplasia of the maxilla, Intellectual disability, Low-set ears, Microdontia, Micrognathia, Narrow mouth, Oligodontia, Optic atrophy, Partial duplication of the proximal phalanx of the 3rd finger, Partial duplication of thumb phalanx, Plagiocephaly, Poor speech, Proximal radio-ulnar synostosis, Proximal symphalangism of hands, Radial deviation of finger, Radioulnar synostosis, Round face, Severe sensorineural hearing impairment, Short foot, Short hallux, Short metacarpal, Short metatarsal, Short nose, Short palm, Short stature, Specific learning disability, Syndactyly, Synophrys, Synostosis of carpals/tarsals, Talon cusp, Tarsal synostosis, Tibial deviation of the 2nd toe, Tibial deviation of the 5th toe, Tooth malposition, Widely-spaced maxillary central incisors

chondrodystrophy, decreased a-wave amplitude, decreased b-wave amplitude, decreased body size, decreased bone mineral content, decreased bone trabecula number, decreased macrophage cell number, decreased red blood cell distribution width, decreased trabecular bone connectivity density, decreased trabecular bone thickness, decreased trabecular bone volume, decreased volumetric bone mineral density, delayed chondrocyte differentiation, disorganized photoreceptor outer segment, hippocampal neuron degeneration, hunched posture, increased mean corpuscular hemoglobin, kinked tail, microgliosis, photoreceptor outer segment degeneration, premature death, premature hair loss, proportional dwarf, retina outer nuclear layer degeneration, retina photoreceptor degeneration, thin retina outer nuclear layer, weakness