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GENE - TERM ANNOTATION REPORT

RGD ID: 12173826
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: FGF2
Name: fibroblast growth factor 2
Acc ID: DOID:9004336
Term: neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
Definition: An autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss.
Definition Source(s): OMIM:616577
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)
FGF2 ISOFGF2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIESPMID:26299366 PMID:28492532
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