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Genetic variation associated with characteristic facial appearances, learning disabilities, and physical abnormalities often involves mutations or alterations in specific genes that influence development. Conditions such as Down syndrome or Williams syndrome exemplify this, where distinct facial features and cognitive challenges arise from chromosomal abnormalities or single-gene mutations. These variations can disrupt normal developmental pathways, leading to the observable traits and disabilities associated with these syndromes. Understanding these genetic factors is crucial for diagnosis and potential interventions.

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