Delayed speech and language development, Diabetes mellitus, Everted lower lip vermilion, Global developmental delay, Growth delay, High palate, High pitched voice, Highly arched eyebrow, Hypoplasia of the corpus callosum, Increased serum insulin-like growth factor 1, Intellectual disability, Intrauterine growth retardation, Lipodystrophy, Long philtrum, Low-set ears, Microcephaly, Micrognathia, Motor delay, Narrow mouth, Patent foramen ovale, Pectus excavatum, Radial deviation of finger, Reduced subcutaneous adipose tissue, Retrognathia, Rieger anomaly, Sandal gap, Short foot, Short palm, Short stature, Small hand, Smooth philtrum, Sparse scalp hair, Strabismus, Synophrys, Thin upper lip vermilion, Thin vermilion border, Triangular face, Truncal obesity, Upslanted palpebral fissure, Ventricular septal defect, Webbed neck, Wide intermamillary distance, Wide nasal bridge

abnormal hair follicle morphology, abnormal inner hair cell kinocilium morphology, abnormal osteoblast physiology, abnormal osteoclast physiology, abnormal postnatal growth/weight/body size, abnormal pulmonary alveolar parenchyma morphology, abnormal response to injury, abnormal skeleton physiology, abnormal susceptibility to injury induced morbidity/mortality, abnormal vascular endothelial cell physiology, abnormal vascular wound healing, decreased airway responsiveness, decreased birth weight, decreased bone mineralization, decreased bone ossification, decreased bone trabecula number, decreased brain size, decreased cochlear hair cell number, decreased cochlear inner hair cell number, decreased cochlear outer hair cell number, decreased collagen level, decreased hair follicle number, decreased oligodendrocyte progenitor number, decreased osteoblast cell number, decreased osteoclast cell number, decreased respiratory mucosa goblet cell number, decreased susceptibility to injury, decreased susceptibility to type I hypersensitivity reaction, decreased testis weight, decreased trabecular bone thickness, decreased trabecular bone volume, delayed bone ossification, digestive/alimentary phenotype, growth/size/body region phenotype, homeostasis/metabolism phenotype, increased body length, increased circulating glucose level, increased heart weight, increased hepatocyte proliferation, increased insulin sensitivity, increased liver weight, increased total body fat amount, neonatal lethality, complete penetrance, reproductive system phenotype, small hair follicles, small seminiferous tubules, thin epidermis, thin epidermis stratum spinosum, thin neurocranium