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Results 11 - 20 of 22 for Congenital heart anomalies
  1. JUP gene 
    ... affected families have had similar skin and hair abnormalities but no apparent heart ... epidermolysis bullosa (LCEB). Features of this condition include ...
    https://medlineplus.gov/genetics/gene/jup - Genetics
  2. MTHFR gene 
    ... Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol. 2000 May ...
    https://medlineplus.gov/genetics/gene/mthfr - Genetics
  3. EBP gene 
    ... JC, Rope AF. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J ...
    https://medlineplus.gov/genetics/gene/ebp - Genetics
  4. SIX5 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Congenital anomalies of kidney and urinary tract More About This ...
    https://medlineplus.gov/genetics/gene/six5 - Genetics
  5. FBN1 gene 
    ... microfibrils weaken connective tissue, which causes the eye, heart, and skeletal abnormalities associated with Weill-Marchesani syndrome. More About This ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  6. FKRP gene 
    ... S, Ray PN, Vajsar J. Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene ( ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  7. TTN gene 
    ... and they can worsen rapidly. Some individuals with congenital titinopathy have heart problems. It is not clear how TTN gene variants affect the titin protein and cause congenital titinopathy. Researchers suspect that the version (isoform) of ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  8. ANK2 gene 
    ... often, mutations in the ANK2 gene lead to abnormalities of the heart's natural pacemaker (the sinoatrial node), a heart ... heart's normal rhythm and leads to the heart problems that can be a part of ankyrin-B syndrome. More About This Health Condition ... Chiang CE. Congenital and acquired long QT syndrome. Current concepts and ...
    https://medlineplus.gov/genetics/gene/ank2 - Genetics
  9. MYH7 gene 
    ... heart (left ventricle) does not develop correctly. The heart muscle is weakened and cannot pump blood efficiently. These cardiac abnormalities can result in a wide range of outcomes ...
    https://medlineplus.gov/genetics/gene/myh7 - Genetics
  10. FKTN gene 
    ... cause Walker-Warburg syndrome, a severe form of congenital muscular dystrophy that affects the development of the eyes, brain, and skeletal muscles. The eye and brain abnormalities seen in those with Walker-Warburg syndrome are ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
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