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GENE - TERM ANNOTATION REPORT

RGD ID: 3310
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pfkfb4
Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
Acc ID: DOID:9002795
Term: Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Definition: A severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. (OMIM)
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)
Pfkfb4 ISOPFKFB4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophyPMID:28492532
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