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Results 1 - 10 of 78 for Congenital heart defect
  1. Critical congenital heart disease 
    ... with people in the general population. CCHD Critical congenital heart defects Genetic Testing Registry: Congenital heart disease Genetic Testing Registry: Congenital heart defects, multiple types, 6 Genetic Testing Registry: Ebstein anomaly ...
    https://medlineplus.gov/.../critical-congenital-heart-disease - Genetics
  2. Holt-Oram syndrome 
    Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.People with Holt-Oram syndrome have abnormally ...
    https://medlineplus.gov/genetics/condition/holt-oram-syndrome - Genetics
  3. Heterotaxy syndrome 
    ... syndrome accounts for approximately 3 percent of all congenital heart defects. For reasons that are unknown, the condition appears ... as a parent or sibling) who has a congenital heart defect without other apparent features of heterotaxy syndrome. Isolated ...
    https://medlineplus.gov/genetics/condition/heterotaxy-syndrome - Genetics
  4. MED13L syndrome 
    ... or heart abnormalities that are present from birth (congenital heart defects).Intellectual disability and developmental delay are usually moderate ... between the nose and upper lip (philtrum).Different congenital heart defects can occur in MED13L syndrome. Affected individuals may ...
    https://medlineplus.gov/genetics/condition/med13l-syndrome - Genetics
  5. McKusick-Kaufman syndrome 
    ... three features: extra fingers and/or toes (polydactyly), congenital heart defects, and genital abnormalities. The most common genital abnormality ... the pinky or little toe (postaxial polydactyly). The congenital heart defects in individuals with McKusick-Kaufman syndrome can include ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  6. 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
  7. 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
  8. Ellis-van Creveld syndrome 
    ... LA, Moller JH. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol. ... Collins RT 2nd. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol. ...
    https://medlineplus.gov/.../condition/ellis-van-creveld-syndrome - Genetics
  9. Abdominal wall defect 
    ... frequently have multiple birth defects, such as a congenital heart defect. Additionally, underdevelopment of the lungs is often associated ...
    https://medlineplus.gov/genetics/condition/abdominal-wall-defect - Genetics
  10. Distal 18q deletion syndrome 
    ... hypothyroidism), heart abnormalities that are present from birth (congenital heart defects), kidney problems, genital abnormalities, and skin problems may ...
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome - Genetics
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