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Results 21 - 30 of 104 for Congenital heart anomalies
  1. Jervell and Lange-Nielsen syndrome 
    ... mutation have a long QT interval with related heart abnormalities, but their hearing is normal. ... Deafness, congenital, and functional heart disease Jervell-Lange Nielsen syndrome ...
    https://medlineplus.gov/.../jervell-and-lange-nielsen-syndrome - Genetics
  2. Congenital diaphragmatic hernia 
    ... several genes.About 25 percent of individuals with congenital diaphragmatic hernia that is not associated with a known syndrome also have abnormalities of one or more major body systems. Affected body systems can include the heart, brain, skeleton, intestines, genitals, kidneys, or eyes. In ...
    https://medlineplus.gov/.../congenital-diaphragmatic-hernia - Genetics
  3. 48,XXYY syndrome 
    ... syndrome may have flat feet (pes planus), elbow abnormalities, abnormal fusion of certain bones in the forearm (radioulnar synostosis), allergies, asthma, type 2 diabetes, seizures, congenital heart defects, and an inflammatory condition in the throat ( ...
    https://medlineplus.gov/genetics/condition/48xxyy-syndrome - Genetics
  4. 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
  5. Fukuyama congenital muscular dystrophy 
    ... have increased pressure in the eye (glaucoma) or abnormalities in the specialized light-sensitive tissue that lines the back of the eye (retina). Individuals with Fukuyama congenital muscular dystrophy often develop heart problems in adolescence. These heart problems worsen over ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
  6. Supravalvular aortic stenosis 
    ... in a group of patients affected by vascular abnormalities. Pediatr Cardiol. 2005 Nov-Dec;26(6):827-31. doi: 10.1007/s00246-005-0885-8. Citation on PubMed Tassabehji M, Urban Z. Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. Methods ...
    https://medlineplus.gov/.../condition/supravalvular-aortic-stenosis - Genetics
  7. 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
  8. Heterotaxy syndrome 
    ... most serious complications are generally caused by critical congenital heart ... abnormalities involved. Some affected individuals have only mild health ...
    https://medlineplus.gov/genetics/condition/heterotaxy-syndrome - 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. Pallister-Killian mosaic syndrome 
    ... vision impairment, seizures, extra nipples, genital abnormalities, and heart ... are born with a congenital diaphragmatic hernia, which is a hole in the ...
    https://medlineplus.gov/.../pallister-killian-mosaic-syndrome - Genetics
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