FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term 7q11.23 duplication syndrome ID (Ontology) DOID:0080926 (Human Disease)
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.
Also Known As "7q11.23 microduplication syndrome" ; "chromosome 7q11.23 duplication syndrome" ; "William-Beuren region duplication syndrome"
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  chromosomal disease
   |__chromosomal duplication syndrome
       |__7q11.23 duplication syndrome
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Is a chromosomal duplication syndrome
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Synonyms
  • "7q11.23 microduplication syndrome" EXACT
    "chromosome 7q11.23 duplication syndrome" EXACT
    "William-Beuren region duplication syndrome" EXACT
Secondary IDs
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GARD:12076
MIM:609757
ORDO:96121