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parkinsonism-dystonia, infantile, 2

Disease Summary
Associated Targets (1)


Explore Associated Targets
Uniprot Description An autosomal recessive disorder characterized by infantile onset of abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay.
Mondo Term and Equivalent IDs
MONDO:0054836:  parkinsonism-dystonia, infantile, 2
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found