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parkinsonism-dystonia, infantile, 2
Disease Summary
Associated Targets (1)
Tclin
1
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.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:618049
UMLS:CN248785
MONDO:0054836
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.