Dysuria, Elevated circulating creatinine concentration, Generalized hypotonia, Global developmental delay, Gout, Hematuria, Hemiplegia/hemiparesis, Hyperreflexia, Hyperuricemia, Hyperuricosuria, Hypotonia, Increased urinary urate, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Macroscopic hematuria, Megaloblastic anemia, Motor delay, Nephrolithiasis, Nephropathy, Opisthotonus, Podagra, Renal insufficiency, Seizure, Self-injurious behavior, Short stature, Spasticity, Testicular atrophy, Uric acid nephrolithiasis, Vomiting

abnormal mitral valve morphology, abnormal motor capabilities/coordination/movement, abnormal myocardial fiber physiology, abnormal neural crest cell morphology, abnormal pancreatic beta cell physiology, abnormal pancreatic islet morphology, abnormal pharyngeal arch mesenchyme morphology, abnormal sleep pattern, behavior/neurological phenotype, cardiac hypertrophy, convulsive seizures, decreased brain choline acetyltransferase activity, decreased brain tyrosine 3-monooxygenase activity, decreased cardiac muscle contractility, decreased dopamine level, decreased embryo size, decreased erythrocyte cell number, decreased exploration in new environment, decreased hemoglobin content, decreased insulin secretion, decreased locomotor activity, decreased pancreatic beta cell mass, decreased susceptibility to injury, decreased ventricle muscle contractility, decreased vertical activity, embryonic lethality during organogenesis, incomplete penetrance, endocrine/exocrine gland phenotype, growth/size/body region phenotype, heart right ventricle outflow tract stenosis, increased grooming behavior, increased heart weight, increased insulin secretion, increased pancreatic beta cell mass, ketoacidosis, lethality throughout fetal growth and development, incomplete penetrance, limb grasping, neuronal intranuclear inclusions, no abnormal phenotype detected, phenotypic reversion, premature death, reproductive system phenotype, retroesophageal right subclavian artery