DO_rare_slim chromosomal duplication syndrome 7q11.23 duplication syndrome MIM:609757 GARD:12076 7q11.23 microduplication syndrome A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. disease_ontology DOID:0080926 ORDO:96121 William-Beuren region duplication syndrome chromosome 7q11.23 duplication syndrome