Total 15 clinical symptoms reported for Partial hypoxanthine-guanine phosphoribosyltransferase deficiency  Occasional (11)Not Applicable Or Unknown (1)Frequent (3)

Abnormality of extrapyramidal motor function	A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).   Synonyms:Extrapyramidal dysfunction; Extrapyramidal signs; Extrapyramidal symptoms; Extrapyramidal syndrome; Extrapyramidal tract signs	Occasional
Abnormality of the nervous system	An abnormality of the nervous system.   Synonyms:Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality	Occasional
Acute kidney injury	Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).   Synonyms:Acute kidney failure; Acute renal failure; AKI	Occasional
Dysuria	Painful or difficult urination.   Synonyms:Painful or difficult urination	Occasional
Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.   Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development	Occasional
Gout	Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.   Synonyms:Gouty arthritis	Occasional
Hyperreflexia	Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.   Synonyms:Increased deep tendon reflexes; Increased reflexes	Occasional
Macroscopic hematuria	Hematuria that is visible upon inspection of the urine.   Synonyms:Bloody urine; Gross hematuria	Occasional
Renal insufficiency	A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.   Synonyms:Renal failure; Renal failure in adulthood	Occasional
Seizure	A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.   Synonyms:Epileptic seizure; Seizures	Occasional
Uric acid nephrolithiasis	The presence of uric acid-containing calculi (stones) in the kidneys.   Synonyms:Uric acid stones; Uric acid urolithiasis	Occasional