Abnormality of vision, Adrenal hyperplasia, Agitation, Ankylosis, Anxiety, Band keratopathy, Basal ganglia calcification, Blindness, Bone pain, Brachydactyly, Broad 1st metacarpal, Broad distal phalanx of the thumb, Bruising susceptibility, Calcinosis, Carious teeth, Cataract, Cerebral calcification, Chest pain, Choreoathetosis, Choroid plexus calcification, Cognitive impairment, Confusion, Conjunctivitis, Constrictive median neuropathy, Cortical subperiosteal resorption of humeral metaphyses, Craniofacial hyperostosis, Decreased circulating ACTH level, Decreased response to growth hormone stimulation test, Delayed eruption of teeth, Depressed nasal bridge, Depression, Diabetes mellitus, Diaphyseal sclerosis, Drug-induced agranulocytosis, Dyskinesia, Dyspnea, Ectopic calcification, Ectopic ossification, Ectopic ossification in muscle tissue, Elevated calcitonin, Elevated circulating growth hormone concentration, Elevated circulating hepatic transaminase concentration, Elevated circulating parathyroid hormone level, Enamel hypoplasia, Facial asymmetry, Failure to thrive, Fatigue, Full cheeks, Generalized hirsutism, Generalized hyperpigmentation, Goiter, Growth delay, Hearing abnormality, Hearing impairment, Hypergonadotropic hypogonadism, Hypermelanotic macule, Hyperostosis frontalis interna, Hyperparathyroidism, Hyperphosphatemia, Hypertension, Hyperthyroidism, Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany, Hypogonadism, Hypophosphatemia, Hyporeflexia, Hypothyroidism, Increased bone density with cystic changes, Increased bone mineral density, Increased circulating cortisol level, Intellectual disability, Intestinal polyposis, Involuntary movements, Irritability, Kyphosis, Large cafe-au-lait macules with irregular margins, Laryngeal dystonia, Limitation of joint mobility, Long penis, Low urinary cyclic AMP response to PTH administration, Macrocephaly, Macronodular adrenal hyperplasia, Macroorchidism, Macule, Mandibular prognathia, Meningioma, Menometrorrhagia, Mental deterioration, Multiple cafe-au-lait spots, Muscle spasm, Muscle weakness, Myoclonic spasms, Neoplasm, Neoplasm of the breast, Neoplasm of the thyroid gland, Nephrolithiasis, Nystagmus, Obesity, Oligomenorrhea, Open bite, Optic atrophy, Osteoarthritis, Osteoma, Osteoma cutis, Osteopenia, Osteoporosis, Papule, Paresthesia, Pathologic fracture, Pituitary adenoma, Pituitary resistance to thyroid hormone, Polycystic ovaries, Polyostotic fibrous dysplasia, Polyphagia, Precocious puberty, Primary hypercortisolism, Prolonged QT interval, Prolonged bleeding time, Pseudohypoparathyroidism, Psychosis, Recurrent fractures, Reduced bone mineral density, Reduced circulating prolactin concentration, Round face, Sarcoma, Seizure, Sensorineural hearing impairment, Short 3rd metacarpal, Short 4th metacarpal, Short 5th metacarpal, Short fifth metatarsal, Short finger, Short metacarpal, Short metatarsal, Short neck, Short stature, Short toe, Skeletal dysplasia, Skeletal muscle atrophy, Spinal cord compression, Strabismus, Striae distensae, Subcutaneous nodule, Tall stature, Testicular neoplasm, Thickened calvaria, Thin skin, Truncal obesity, obsolete Mood changes

abnormal gas homeostasis, abnormal heart size, abnormal hypodermis morphology, abnormal imprinting, abnormal kidney morphology, abnormal long bone epiphyseal plate morphology, abnormal long bone epiphyseal plate proliferative zone, abnormal motor capabilities/coordination/movement, abnormal outer ear morphology, abnormal pulmonary alveolus morphology, abnormal renin activity, abnormal response to new environment, abnormal response/metabolism to endogenous compounds, abnormal spatial learning, abnormal spatial working memory, abnormal suckling behavior, abnormal ventral striatum morphology, abnormal white adipose tissue physiology, absent gastric milk in neonates, behavior/neurological phenotype, cellular phenotype, decreased alcohol consumption, decreased birth body size, decreased birth weight, decreased body fat mass, decreased body length, decreased body mass index, decreased body size, decreased brown adipose tissue amount, decreased circulating free fatty acids level, decreased circulating glucose level, decreased circulating parathyroid hormone level, decreased epididymal fat pad weight, decreased heart weight, decreased inguinal fat pad weight, decreased interscapular fat pad weight, decreased lean body mass, decreased liver triglyceride level, decreased locomotor activity, decreased mean systemic arterial blood pressure, decreased mesenteric fat pad weight, decreased oxygen consumption, decreased percent body fat/body weight, decreased prepulse inhibition, decreased renal fat pad weight, decreased renal glomerular filtration rate, decreased survivor rate, decreased susceptibility to diet-induced obesity, decreased triglyceride level, decreased urine noradrenaline level, decreased urine osmolality, decreased white adipose tissue amount, decreased white fat cell size, delayed kidney development, domed cranium, ectopic bone, endocrine/exocrine gland phenotype, enhanced long term potentiation, enhanced paired-pulse facilitation, enlarged lateral ventricles, genetic imprinting, homeostasis/metabolism phenotype, impaired adaptive thermogenesis, impaired balance, impaired contextual conditioning behavior, impaired righting response, improved glucose tolerance, increased basal metabolism, increased birth body size, increased birth weight, increased body mass index, increased brown adipose tissue amount, increased brown fat cell lipid droplet size, increased carbon dioxide production, increased circulating ghrelin level, increased circulating glucose level, increased circulating parathyroid hormone level, increased energy expenditure, increased fatty acid oxidation, increased food intake, increased heart weight, increased insulin sensitivity, increased interscapular fat pad weight, increased lean body mass, increased liver weight, increased muscle cell glucose uptake, increased oxygen consumption, increased pancreas weight, increased startle reflex, increased total body fat amount, increased white adipose tissue amount, insensitivity to parathyroid hormone, maternal imprinting, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, nervous system phenotype, no abnormal phenotype detected, no spontaneous movement, pancreatic islet hyperplasia, paternal imprinting, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, skin edema, skin lesions, slow postnatal weight gain, small heart, thymus cortex atrophy, weakness