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Results 1 - 10 of 22 for Congenital heart anomalies
  1. MED13L gene 
    ... with MED13L syndrome have recurrent seizures (epilepsy) or heart abnormalities that are present from birth (congenital heart defects).Some MED13L gene mutations insert or ...
    https://medlineplus.gov/genetics/gene/med13l - Genetics
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. CAVIN1 gene 
    ... bloodstream (hypertriglyceridemia) and diabetes mellitus. Additional features of ... of the heart rhythm (arrhythmias) that can lead to sudden death. ...
    https://medlineplus.gov/genetics/gene/cavin1 - Genetics
  8. GJA1 gene 
    ... in the GJA1 gene leads to the bone abnormalities that are seen in people with the autosomal recessive form of craniometaphyseal dysplasia. More About This Health Condition MedlinePlus Genetics provides information about Critical congenital heart disease More About This Health Condition Variants in ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  9. PHOX2B gene 
    ... the PHOX2B gene have been found to cause congenital central hypoventilation ... also have abnormalities in the nerves that control the digestive tract ( ...
    https://medlineplus.gov/genetics/gene/phox2b - Genetics
  10. WT1 gene 
    ... This Health Condition MedlinePlus Genetics provides information ... of the male genitalia, heart, and diaphragm. Individuals with this condition have a ...
    https://medlineplus.gov/genetics/gene/wt1 - Genetics
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