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VARIANT - TERM ANNOTATION REPORT

RGD ID: 243053839
Species: Homo sapiens
RGD Object: Variant
Symbol: CV2405748
Name: NM_004523.4(KIF11):c.2369G>C (p.Gly790Ala)
Acc ID: DOID:0060349
Term: microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Definition: A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10482868 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/11302131 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25124931 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/5936364 "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)
CV2405748 IAGP 8554872ClinVarClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENTPMID:25741868
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