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Neurologic Variant Lesch-Nyhan Syndrome

mutation in HPRT

Also Known As:

Lesch-Nyhan Syndrome, Neurologic Variant; HPRT Deficiency, Neurologic Variant

Networked: 0 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - X-Linked Mental Retardation: 272
        Lesch-Nyhan Syndrome: 724
        Neurologic Variant Lesch-Nyhan Syndrome
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Lesch-Nyhan Syndrome: 724
        Neurologic Variant Lesch-Nyhan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Lesch-Nyhan Syndrome: 724
        Neurologic Variant Lesch-Nyhan Syndrome
    - Inborn Errors Purine-Pyrimidine Metabolism
      - Lesch-Nyhan Syndrome: 724
        Neurologic Variant Lesch-Nyhan Syndrome
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Lesch-Nyhan Syndrome: 724
        Neurologic Variant Lesch-Nyhan Syndrome