Baraitser-Winter syndrome 1 (DOID:0081112)
Alliance: disease page
Alt IDs: OMIM:243310
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.