Brachycephaly, Broad clavicles, Broad metacarpals, Carpal osteolysis, Coarctation of aorta, Double outlet right ventricle, Hirsutism, Hypertension, Increased susceptibility to fractures, Intellectual disability, Iris coloboma, Localized skin lesion, Mitral valve prolapse, Nodular goiter, Omphalocele, Osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Osteolysis involving tarsal bones, Osteopenia, Osteoporosis, Papilledema, Polycystic ovaries, Premature thelarche, Pterygium, Sclerotic cranial sutures, Subcutaneous nodule, Type I diabetes mellitus, Ventricular septal defect

abnormal cranium morphology, abnormal dendritic cell physiology, abnormal fontanelle morphology, abnormal forelimb morphology, abnormal hypodermis fat layer morphology, abnormal interparietal bone morphology, abnormal kidney corticomedullary boundary morphology, abnormal kidney development, abnormal kidney morphology, abnormal kidney papilla morphology, abnormal long bone epiphyseal plate morphology, abnormal long bone epiphyseal plate proliferative zone, abnormal neurocranium morphology, abnormal osteoclast physiology, abnormal postnatal growth/weight/body size, abnormal pulmonary alveolus morphology, abnormal pulmonary elastic fiber morphology, abnormal skeleton development, abnormal skeleton physiology, abnormal submandibular gland branching morphogenesis, abnormal terminal bronchiole morphology, abnormal tooth development, abnormal upper incisor morphology, absent alveolar pores, absent sexual maturation, adipose tissue phenotype, decreased angiogenesis, decreased body size, decreased cranium height, decreased cranium length, decreased kidney cell proliferation, decreased locomotor activity, decreased renal glomerulus number, decreased submandibular gland size, delayed bone ossification, delayed cranial suture closure, delayed endochondral bone ossification, delayed intramembranous bone ossification, dilated pulmonary alveolar duct, dilated respiratory conducting tube, disproportionate dwarf, domed cranium, enlarged optic nerve, focal hair loss, impaired branching involved in ureteric bud morphogenesis, impaired lung alveolus development, impaired osteoblast differentiation, increased bone marrow adipose tissue amount, increased or absent threshold for auditory brainstem response, increased percent body fat/body weight, increased skeletal muscle fiber size, increased width of hypertrophic chondrocyte zone, kidney cortex hypoplasia, lethality at weaning, complete penetrance, no abnormal phenotype detected, overexpanded pulmonary alveoli, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, incomplete penetrance, round head, short incisors, short lower incisors, short mandible, short maxilla, short upper incisors, skeletal muscle fibrosis, skeletal muscle interstitial fibrosis, skeleton phenotype, skin fibrosis, small cranial cavity, small kidney, small lung, small mandible, vision/eye phenotype