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 116 for Congenital heart defects
  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 
    ... PubMed Mori AD, Bruneau BG. TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr Opin Cardiol. 2004 May;19(3):211-5. doi: 10.1097/00001573-200405000-00004. Citation on PubMed
    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. 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
  6. 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
  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. Kleefstra syndrome 
    ... Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a tendency to develop ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  10. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... affected individuals also have heart abnormalities, such as congenital heart defects or heart rhythm abnormalities (arrhythmias). In addition, individuals ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next