7q11.23 duplication syndrome

Term ID

DOID:0080926

Synonyms

• 7q11.23 microduplication syndrome
• chromosome 7q11.23 duplication syndrome
• William-Beuren region duplication syndrome

Definition

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. (2)

References

• GARD:12076
• MIM:609757
• ORDO:96121

Ontology

Human Disease   ( DOID:0080926 )