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GENE - TERM ANNOTATION REPORT

RGD ID: 3694
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc18a2
Name: solute carrier family 18 member A2
Acc ID: DOID:9009198
Term: Parkinsonism-Dystonia, Infantile, 2
Definition: An autosomal recessive complex infantile-onset neurologic disorder characterized by 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.
Definition Source(s): OMIM:618049
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
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