due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia

mutation in sepiapterin reductase

Also Known As:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency; Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency; Sepiapterin Reductase Deficiency; Spr Deficiency

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Dyskinesias: 7807
    - Dystonia: 5088
      - due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28
  - Neurobehavioral Manifestations: 1586
    - Psychomotor Disorders: 231
      - due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Dyskinesias: 7807
      - Dystonia: 5088
        due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28
    - Neurobehavioral Manifestations: 1586
      - Psychomotor Disorders: 231
        due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Psychomotor Disorders: 231
    - due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28

Mohamed AlMuhaizae Selected Research

Mohamed AlMuhaizae Research Topics

Disease

Drug/Important Bio-Agent (IBA)