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Results 1 - 10 of 48 for Congenital heart block
  1. MED13L gene 
    ... or heart abnormalities that are present from birth (congenital heart ... single protein building blocks (amino acids) in the MED13L protein. It is ...
    https://medlineplus.gov/genetics/gene/med13l - Genetics
  2. DOLK gene 
    ... disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of ... building blocks (amino acids) in the dolichol kinase enzyme, leading ...
    https://medlineplus.gov/genetics/gene/dolk - Genetics
  3. AFF4 gene 
    ... involving multiple abnormalities that are present from birth (congenital). ... protein building blocks (amino acids) in the AFF4 protein. These mutations ...
    https://medlineplus.gov/genetics/gene/aff4 - Genetics
  4. PRKAG2 gene 
    ... very severe form of heart disease called lethal congenital glycogen storage ... a single protein building block (amino acid) in the gamma-2 subunit of ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  5. 3p deletion syndrome 
    ... seizures, weak muscle tone (hypotonia), intestinal abnormalities, or congenital heart defects. ... ranging from approximately 150,000 DNA building blocks (150 kilobases or 150 kb) to 11 million ...
    https://medlineplus.gov/genetics/condition/3p-deletion-syndrome - Genetics
  6. McKusick-Kaufman syndrome 
    ... three features: extra fingers and/or toes (polydactyly), congenital heart defects, and genital abnormalities. The most common genital ... the pinky or little toe (postaxial polydactyly). The congenital heart defects in individuals with McKusick-Kaufman syndrome can ...
    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 ... MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Hum Mol Genet. 2010 Oct 15;19( ...
    https://medlineplus.gov/genetics/gene/myh6 - Genetics
  8. GJA1 gene 
    ... Health Condition MedlinePlus Genetics provides information about Critical congenital heart disease More About This Health Condition Variants in ... on Genomic and Precision Medicine. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  9. TBX5 gene 
    ... PubMed Mori AD, Bruneau BG. TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr Opin Cardiol. ...
    https://medlineplus.gov/genetics/gene/tbx5 - Genetics
  10. MKKS gene 
    ... 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
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