Conditions

Choose a condition from the buttons below.

• 22Q Deletion Velocardiofacial
• Achondroplasia
• Aicardi Syndrome
• Angelman Syndrome (AS)
• Autism Spectrum Disorder
• Charge Syndrome
• Congenital Heart Defects
• Cornelia De Lange Syndrome (CDLS)
• Cystic Fibrosis
• Down Syndrome
• Ehlers-Danlos Syndrome (EDS)
• Fetal Alcohol Spectrum Disorders (FASDS)
• Fragile X
• Galactosemia
• Kabuki Syndrome
• Klinefelter Syndrome
• Marfan Syndrome
• MCAD
• MECP2 Duplication
• Mitochondrial Disorders
• MPS Disorders (Hurler/Hunter/Morquio)
• Neurofibromatosis 1
• Noonan Syndrome
• Phenylketonuria (PKU)
• Prader-Willi
• RETT/RETT Variant Syndrome
• Rubinstein-Taybi Syndrome
• Russell-Silver Syndrome
• Sickle Cell Disease
• SMA, MD & Other Neuromuscular Disorders
• Smith-Magenis Syndrome
• Sotos Syndrome
• Tuberous Sclerosis
• Turner Syndrome
• Urea Cycle Disorders
• VLCAD
• Williams Syndrome
• Undiagnosed Medical or Developmental Conditions
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