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Metadata
ID	DOID:0081112
Name	Baraitser-Winter syndrome 1
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. https://pubmed.ncbi.nlm.nih.gov/29220674/
Xrefs	MIM:243310
Parent Relationships	is_a Baraitser-Winter syndrome is_a autosomal dominant disease