Brachydactyly, Broad clavicles, Broad forehead, Broad nasal tip, Buphthalmos, Camptodactyly of finger, Clinodactyly of the 5th finger, Coarse facial features, Cortical irregularity, Deeply set eye, Delayed cranial suture closure, Delayed eruption of teeth, Dental malocclusion, Depressed nasal bridge, Downslanted palpebral fissures, Flared metaphysis, Flat occiput, Full cheeks, Genu recurvatum, Gingival overgrowth, Glaucoma, Growth delay, Gynecomastia, High forehead, High palate, Hip dysplasia, Hypertelorism, Joint stiffness, Kyphosis, Low-set ears, Mandibular prognathia, Metatarsus adductus, Micrognathia, Mitral valve prolapse, Motor delay, Osteolysis, Osteopenia, Osteoporosis, Pectus excavatum, Premature loss of teeth, Prominent coccyx, Prominent forehead, Proptosis, Protruding ear, Scoliosis, Short long bone, Short phalanx of finger, Short philtrum, Talipes equinovarus, Thick vermilion border, Thickened skin, Umbilical hernia, Wide anterior fontanel, Wide mouth, Wide nasal bridge, Wormian bones, obsolete Abnormality of the metacarpal bones

abnormal neurocranium morphology, abnormal postnatal growth, abnormal retina nerve fiber layer morphology, abnormal sagittal suture morphology, abnormal skeleton development, abnormal xiphoid process morphology, absent Schlemm's canal, absent trabecular meshwork, decreased abdominal adipose tissue amount, decreased body fat mass, decreased body size, decreased cranium height, decreased gonadal fat pad weight, decreased renal fat pad weight, decreased total retina thickness, decreased white adipose tissue amount, domed cranium, enlarged eye anterior chamber, eye inflammation, hyphema, hypopyon, increased eye anterior chamber depth, increased or absent threshold for auditory brainstem response, increased susceptibility to otitis media, irregularly shaped pupil, mature cataract, ocular hypertension, optic nerve cupping, optic nerve degeneration, postnatal lethality, proportional dwarf, retina ganglion cell degeneration, short mandible, short maxilla, thin interventricular septum