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Results 11 - 20 of 104 for Congenital heart anomalies
  1. Critical congenital heart disease 
    ... Testing Registry: Congenital heart disease Genetic Testing Registry: Congenital heart defects, multiple types, 6 Genetic Testing Registry: Ebstein anomaly Genetic Testing Registry: Hypoplastic left heart syndrome Genetic ...
    https://medlineplus.gov/.../critical-congenital-heart-disease - Genetics
  2. Congenital contractural arachnodactyly 
    ... typically not shortened.A rare, severe form of congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; ...
    https://medlineplus.gov/.../congenital-contractural-arachnodactyly - Genetics
  3. Severe congenital neutropenia 
    ... health problems such as seizures, developmental delay, or heart and genital abnormalities. The incidence of severe congenital neutropenia is estimated to be 1 in 200, ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  4. Familial thoracic aortic aneurysm and dissection 
    ... abdominal aorta). Some people with familial TAAD have heart abnormalities that are present from birth (congenital). Affected individuals may also have a soft out- ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics
  5. NOTCH1 gene 
    ... Condition NOTCH1 gene mutations are involved in critical congenital heart disease. Individuals with this condition have one or more specific heart abnormalities that affect the flow of blood into, out ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  6. PIGT gene 
    ... low muscle tone (hypotonia); distinct facial features; and abnormalities that are present from birth (congenital), typically involving the heart, bones, urinary system, or digestive system.Individuals with ...
    https://medlineplus.gov/genetics/gene/pigt - Genetics
  7. TXNL4A gene 
    ... syndrome, a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing loss, heart abnormalities, and short stature. Most people with Burn- ...
    https://medlineplus.gov/genetics/gene/txnl4a - Genetics
  8. CHOPS syndrome 
    ... involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an ... with CHOPS syndrome have intellectual disability and ...
    https://medlineplus.gov/genetics/condition/chops-syndrome - Genetics
  9. AFF4 gene 
    ... involving multiple abnormalities that are present from birth (congenital). ... skeletal abnormalities.The AFF4 gene mutations identified in people with ...
    https://medlineplus.gov/genetics/gene/aff4 - Genetics
  10. PRKAG2 gene 
    ... very severe form of heart disease called lethal congenital glycogen storage ... These abnormalities lead to respiratory distress and heart failure early ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
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