Accelerated skeletal maturation, Acute pancreatitis, Ankle weakness, Arrhythmia, Arterial stenosis, Ataxia, Atherosclerosis, Atlantoaxial dislocation, Atrial fibrillation, Babinski sign, Bone cyst, Bradycardia, Brisk reflexes, Broad foot, Caudate atrophy, Cerebral atrophy, Cirrhosis, Clitoral hypertrophy, Coarse facial features, Cognitive impairment, Cold-induced hand cramps, Congestive heart failure, Cystic angiomatosis of bone, Decreased circulating IgA level, Decreased fertility, Decreased fertility in females, Decreased response to growth hormone stimulation test, Decreased serum leptin, Delayed skeletal maturation, Delayed speech and language development, Developmental regression, Diabetes mellitus, Distal amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, Dysmenorrhea, Dystonia, Elevated circulating growth hormone concentration, Elevated circulating hepatic transaminase concentration, Encephalopathy, Exercise-induced myalgia, Failure to thrive, First dorsal interossei muscle atrophy, First dorsal interossei muscle weakness, Flexion contracture, Foot dorsiflexor weakness, Gait ataxia, Generalized hirsutism, Generalized lipodystrophy, Generalized muscular appearance from birth, Glomerulopathy, Hammertoe, Hand muscle atrophy, Hand muscle weakness, Hepatic failure, Hepatic steatosis, Hepatomegaly, High pitched voice, Hip pain, Hirsutism, Hyperactivity, Hyperhidrosis, Hyperinsulinemia, Hyperlordosis, Hyperreflexia, Hypertension, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Immunodeficiency, Impaired vibration sensation in the lower limbs, Impaired vibratory sensation, Insulin resistance, Insulin-resistant diabetes mellitus at puberty, Intellectual disability, Intellectual disability, mild, Knee pain, Labial hypertrophy, Large hands, Limb dystonia, Lipoatrophy, Lipodystrophy, Long foot, Loss of speech, Loss of subcutaneous adipose tissue in limbs, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Mandibular prognathia, Mental deterioration, Motor polyneuropathy, Muscle stiffness, Muscle weakness, Myalgia, Myocardial infarction, Myoclonus, Myopathy, Nephrolithiasis, Nephropathy, Neuronal loss in central nervous system, Oligomenorrhea, Osteopenia, Osteoporosis, Palpitations, Pancreatitis, Peripheral neuropathy, Pes cavus, Pes planus, Pes valgus, Polycystic ovaries, Polyphagia, Poor motor coordination, Postural tremor, Precocious puberty, Progressive encephalopathy, Progressive proximal muscle weakness, Progressive psychomotor deterioration, Prolonged QTc interval, Prominent supraorbital ridges, Prominent umbilicus, Pulmonary arterial hypertension, Pyloric stenosis, Recurrent fractures, Recurrent infections, Reduced intraabdominal adipose tissue, Reduced intrathoracic adipose tissue, Reduced subcutaneous adipose tissue, Renal insufficiency, Respiratory insufficiency, Scoliosis, Secondary amenorrhea, Seizure, Skeletal muscle hypertrophy, Sleep disturbance, Spastic gait, Spastic paraplegia, Spasticity, Spinal rigidity, Splenomegaly, Split hand, Status epilepticus, Tall stature, Tetraparesis, Thenar muscle atrophy, Thenar muscle weakness, Thickened skin, Tremor, Triangular face, Umbilical hernia, Unsteady gait, Upper limb amyotrophy, Upper limb muscle weakness, Ventricular hypertrophy, Ventricular septal hypertrophy, Ventriculomegaly

abnormal infrapatellar fat pad morphology, abnormal lipid homeostasis, abnormal mean corpuscular hemoglobin, abnormal mean corpuscular volume, abnormal prepulse inhibition, abnormal sperm flagellum morphology, abnormal sperm head morphology, abnormal spermatid morphology, abnormal spermiogenesis, abnormal triglyceride level, abnormal white adipose tissue amount, abnormal white adipose tissue morphology, abnormal white adipose tissue physiology, abnormal white fat cell differentation, abnormal white fat cell morphology, adipose tissue phenotype, asthenozoospermia, behavior/neurological phenotype, browned white adipose tissue morphology, decreased blood urea nitrogen level, decreased body fat mass, decreased body length, decreased body size, decreased bone marrow adipose tissue amount, decreased bone mineral content, decreased brown adipose tissue amount, decreased brown adipose tissue mass, decreased carbon dioxide production, decreased circulating adiponectin level, decreased circulating free fatty acids level, decreased circulating glucose level, decreased circulating glycerol level, decreased energy expenditure, decreased eosinophil cell number, decreased erythrocyte cell number, decreased gonadal fat pad weight, decreased inguinal fat pad weight, decreased interscapular fat pad weight, decreased locomotor activity, decreased mesenteric fat pad weight, decreased oxygen consumption, decreased prepulse inhibition, decreased renal fat pad weight, decreased respiratory quotient, decreased retroperitoneal fat pad weight, decreased susceptibility to diet-induced obesity, decreased total retina thickness, decreased white adipose tissue amount, decreased white fat cell number, decreased white fat cell size, enhanced lipolysis, homeostasis/metabolism phenotype, improved glucose tolerance, increased body temperature, increased brown adipose tissue amount, increased circulating alkaline phosphatase level, increased circulating glucose level, increased fluid intake, increased food intake, increased lean body mass, increased liver triglyceride level, increased liver weight, increased mean corpuscular hemoglobin, increased respiratory quotient, liver/biliary system phenotype, macrovesicular hepatic steatosis, microvesicular hepatic steatosis, postnatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, reproductive system phenotype