Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 29 for Congenital Heart Defects
  1. MED13L gene 
    ... or heart abnormalities that are present from birth (congenital heart defects).Some MED13L gene mutations insert or delete regions ... changes of MED13L further delineate its role in congenital heart defects and intellectual disability. Eur J Hum Genet. 2013 ...
    https://medlineplus.gov/genetics/gene/med13l - Genetics
  2. MYH6 gene 
    ... to cause several additional heart conditions. These include congenital heart defects, particularly atrial-septal defect (ASD), which is a ... MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Hum Mol Genet. 2010 Oct 15;19(20): ...
    https://medlineplus.gov/genetics/gene/myh6 - Genetics
  3. MKKS gene 
    ... LM, Sheffield VC, Slusarski DC. Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  4. 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
  5. 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
  6. 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
  7. AFF4 gene 
    ... involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal ...
    https://medlineplus.gov/genetics/gene/aff4 - Genetics
  8. 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
  9. GJA1 gene 
    ... thought to cause the eye, tooth, and finger abnormalities characteristic of oculodentodigital ... More About This Health Condition MedlinePlus Genetics ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  10. 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
previous · 1 · 2 · 3 · next