Conditions

Choose a condition from the buttons below.

22q Deletion Velocardiofacial

Aicardi Syndrome

Angelman Syndrome (AS)

Autism Spectrum Disorder (ASD)

CHARGE Syndrome

Congenital Heart Defects

Cornelia de Lange Syndrome (CdLS)

Cystic Fibrosis

Ehlers-Danlos Syndrome (EDS)

Fetal Alcohol Spectrum Disorders (FASDs)

Fragile X

Kabuki Syndrome

Klinefelter Syndrome

Marfan Syndrome

MCAD

MECP2 Duplication

Mitochondrial Disorders

MPS Disorders (Hurler/Hunter/Morquio)

Neurofibromatosis 1

Neuromuscular Disorders

Noonan Syndrome

Phenylketonuria (PKU)

Rett/Rett variant Syndrome

Rubinstein-Taybi Syndrome

Russell-Silver Syndrome

Sickle Cell Disease

Smith-Magenis Syndrome

Tuberous Sclerosis

Turner Syndrome

Urea Cycle Disorders

VLCAD

Williams Syndrome

Undiagnosed Medical or Developmental Conditions

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