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X-linked parkinsonism-spasticity syndrome

Disease Summary
Associated Targets (1)


Mondo Description X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.
Uniprot Description A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity.
Mondo Term and Equivalent IDs
MONDO:0010482:  X-linked parkinsonism-spasticity syndrome