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Human Genetics Conditions We Evaluate

  • 22q11.2 Deletion and Duplication Syndromes
  • Alagille Syndrome
  • Beckwith-Wiedemann Syndrome
  • Chronic Granulomatous Disease (CGD)
  • Congenital Disorders of Glycosylation (CDG)
  • Congenital Heart Disease
  • Cornelia de Lange Syndrome
  • Dravet Syndrome
  • Epidermolysis Bullosa
  • Friedreich's Ataxia
  • Genetic Cervical Spine Conditions
  • Hemihyperplasia
  • KCNB1-Related Disorders
  • KCNC1-Related Disorders
  • KCNQ2-Related Epilepsies
  • Mitochondrial Disease
  • Mucopolysaccharidosis Type 1
  • Mucopolysaccharidosis Type II
  • Noonan Syndrome
  • Pallister-Killian Syndrome
  • PCDH19-Epilepsy
  • PTEN Hamartoma Tumor Syndrome
  • SCN2A-Related Disorders
  • SCN3A-Related Neurodevelopmental Disorders
  • SCN8A-Related Epilepsy
  • Skraban-Deardorff Syndrome
  • Spondyloepiphyseal Dysplasia Congenita
  • STXBP1-Related Disorders
  • Wiskott-Aldrich Syndrome
  • WT1-Related Wilms Tumor Syndromes
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Children’s Hospital of Philadelphia

3401 Civic Center Blvd.
Philadelphia, PA 19104

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