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RGD ID: 2321145
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fbxw7
Name: F-box and WD repeat domain containing 7
Acc ID: DOID:0070420
Term: developmental delay, hypotonia, and impaired language
Definition: An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31. (DO)
Definition Source(s): "DO" "DO"
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)
Fbxw7 ISOFBXW7 (Homo sapiens)7240710OMIM  
Fbxw7 ISOFBXW7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related conditionPMID:24728327 PMID:25741868 PMID:28135719 PMID:28492532 PMID:35395208
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