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Genetic Syndromes with Autism‑Like Features: Fragile X, Down, Rett, Angelman, Phelan‑McDermid

  • Fragile X: FMR1 CGG repeat; most common inherited ID; autism features, hyperactivity.
  • Down syndrome: Trisomy 21; ID, characteristic facies, congenital heart defects.
  • Rett syndrome: MECP2 mutation; females; regression, hand stereotypies, seizures.
  • Angelman syndrome: UBE3A deletion/mutation (chr15); severe ID, happy demeanor, ataxia, seizures.
  • Phelan‑McDermid: SHANK3 deletion (22q13); ID, absent speech, autism, seizures.

Genetic testing confirms diagnosis; early intervention improves outcomes.

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