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GENE - TERM ANNOTATION REPORT

RGD ID: 620074
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pou4f1
Name: POU class 4 homeobox 1
Acc ID: DOID:9006671
Term: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
Definition: This disease is a neurodevelopmental disorder characterized by delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Affected individuals have global developmental delay with mildly impaired intellectual development and speech delay or learning disabilities.
Definition Source(s): OMIM:619352
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)
Pou4f1 ISOPOU4F1 (Homo sapiens)7240710OMIM  
Pou4f1 ISOPOU4F1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onsetPMID:25741868 PMID:29758562 PMID:33783914
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