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GENE - TERM ANNOTATION REPORT

RGD ID: 3202
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nr4a2
Name: nuclear receptor subfamily 4, group A, member 2
Acc ID: DOID:9006288
Term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
Definition: This disease is a neurodevelopmental disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Most patients also show movement abnormalities, often hypotonia early in the disease course with later development of dopa-responsive dystonia or parkinsonism
Definition Source(s): OMIM:619911
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)
Nr4a2 ISONR4A2 (Homo sapiens)7240710OMIM  
Nr4a2 ISONR4A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonismPMID:25741868 PMID:29758562 PMID:29770430 PMID:31428396 PMID:31922365 PMID:32366965 PMID:33585677
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