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311850
PRPS1
PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I
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Musculoskeletal Diseases
Joint Diseases
Arthritis
Gout
Rheumatic Diseases
Gout
Otorhinolaryngologic Diseases
Ear Diseases
Hearing Disorders
Hearing Loss
Deafness
Hearing Loss, Sensorineural
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Epilepsy
Epilepsy, Generalized
Spasms, Infantile
Cranial Nerve Diseases
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies, Hereditary
Demyelinating Diseases
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Optic Atrophies, Hereditary
Neurologic Manifestations
Dyskinesias
Ataxia
Neurobehavioral Manifestations
Intellectual Disability
Neuromuscular Manifestations
Muscle Hypotonia
Sensation Disorders
Hearing Disorders
Hearing Loss
Deafness
Hearing Loss, Sensorineural
Vision Disorders
Neuromuscular Diseases
Peripheral Nervous System Diseases
Eye Diseases
Eye Diseases, Hereditary
Optic Atrophies, Hereditary
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies, Hereditary
Vision Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Eye Diseases, Hereditary
Optic Atrophies, Hereditary
Heredodegenerative Disorders, Nervous System
Optic Atrophies, Hereditary
Metabolism, Inborn Errors
Purine-Pyrimidine Metabolism, Inborn Errors
Gout
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Purine-Pyrimidine Metabolism, Inborn Errors
Gout
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Disease
Syndrome
Signs and Symptoms
Neurologic Manifestations
Dyskinesias
Ataxia
Neurobehavioral Manifestations
Intellectual Disability
Neuromuscular Manifestations
Muscle Hypotonia
Sensation Disorders
Hearing Disorders
Hearing Loss
Deafness
Hearing Loss, Sensorineural
Vision Disorders
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