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Division of Genetics and Metabolism Department of Pediatrics in the College of Medicine
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  1. Education
  2. Common Genetic Syndromes
Education Overview
  • Common Genetic Syndromes
  • Metabolic Pathways
  • Lysosomal Storage Disorders
  • Angelman Syndrome
  • Angelman Syndrome and Genetic Counseling
  • Chromosome Ideograms
  • Hand Malformations
  • Facial Dysmorphology
  • Resident & Fellow Resources

Common Genetic Syndromes

Top 20 Syndromes

Chromosome microdeletions

  • Angelman Syndrome
  • DiGeorge\VCF (22q deletion)
  • Prader-Willi Syndrome
  • Williams Syndrome

Chromosome aneuploides

  • Down Syndrome
  • Klinefelter Syndrome (XXY)
  • Trisomy 18 and Trisomy 13
  • Turner Syndrome (45,X)

Single gene conditions and other disorders

  • Ehlers-Danlos Syndrome
  • Fragile X Syndrome
  • Marfan Syndrome
  • Neurofibromatosis type 1
  • Noonan Syndrome
  • Osteogenesis Imperfecta
  • Phenylketonuria (PKU)
  • Rett Syndrome
  • Smith-Lemli-Opitz Syndrome
  • Tuberous Sclerosis
  • Fetal Alcohol Syndrome
  • Russell-Silver Syndrome
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Division of Genetics and Metabolism Department of Pediatrics in the College of Medicine

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1701 S.W. 16th Ave
Gainesville, FL 32608
Phone
(352) 294-5050
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