" /> Williams-Beuren Region Duplication Syndrome - CISMeF





Preferred Label : Williams-Beuren Region Duplication Syndrome;

NCIt synonyms : Somerville-Van Der AA Syndrome; Chromosome 7q11.23 Duplication Syndrome; WBS Duplication Syndrome;

NCIt definition : A rare chromosomal anomaly cause by partial duplication of small segment of chromosome 7 (7q11.23). It is characterized by a highly variable phenotype, typically including mild-moderate intellectual developmental delay, and delayed development of speech and motor skills.;

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29/07/2025


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