FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term Baraitser-Winter syndrome 1 ID (Ontology) DOID:0081112 (Human Disease)
Definition A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.
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 Genes
 Baraitser-Winter syndrome 1       7
 for disease ribbon | Baraitser-Winter syndrome 1       7
 model of | Baraitser-Winter syndrome 1       7
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autosomal genetic disease
 |__autosomal dominant disease__
syndrome                        |
 |__Baraitser-Winter syndrome___|
                                Baraitser-Winter syndrome 1  7 rec.
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Is a autosomal dominant disease
Baraitser-Winter syndrome
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MIM:243310