Term Name:	Baraitser-Winter syndrome 1
Synonyms:
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.
Ontology:	Human Disease [DOID:0081112]   ( DOID:0081112 )