Williams-Beuren Region Duplication Syndrome

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - Chromosome 7q11.23 Duplication Syndrome - Somerville-Van Der AA Syndrome - WBS Duplication Syndrome