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Results 1 - 10 of 62 for Congenital disruption
  1. CLPB gene 
    ... Velde C, Rouleau GA, Drapeau P, Michaud JL. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  2. CLPB deficiency 
    ... Velde C, Rouleau GA, Drapeau P, Michaud JL. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  3. Congenital diaphragmatic hernia 
    ... body, but the specific mechanism responsible for this disruption is not clear.Approximately 50 to 60 percent of congenital diaphragmatic hernia cases are isolated, which means that ...
    https://medlineplus.gov/.../congenital-diaphragmatic-hernia - Genetics
  4. RYR1 gene 
    ... an abnormally short, nonfunctional protein. Researchers suspect that disruption of the RYR1 channel may play a role in the muscle weakness and other features of congenital fiber-type disproportion, although the role of RYR1 ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  5. TPO gene 
    ... absent or reduced, leading to the features of congenital hypothyroidism. In ... from a disruption of thyroid hormone synthesis, they are classified as ...
    https://medlineplus.gov/genetics/gene/tpo - Genetics
  6. Antiarrhythmics (Texas Heart Institute)  
    Antiarrhythmics are used to treat heart rhythm disorders, called arrhythmias , and to lessen the symptoms associated with them. Some of the common symptoms ...
    https://www.texasheart.org/.../topics/antiarrhythmics - External Health Links
  7. COG5 gene 
    ... the COG5 gene are known to cause COG5-congenital disorder of glycosylation ... disruption results in abnormal protein glycosylation, which can affect ...
    https://medlineplus.gov/genetics/gene/cog5 - Genetics
  8. What Are Intellectual and Developmental Disabilities (IDDs)? From the National Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    Developmental Disabilities/Start Here ... Developmental Disabilities ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... From the ...
    https://www.nichd.nih.gov/health/topics/idds/conditioninfo - External Health Links
  9. SLC5A5 gene 
    ... of thyroid hormones. The signs and symptoms of congenital hypothyroidism ... due to a disruption of thyroid hormone synthesis, they are classified as ...
    https://medlineplus.gov/genetics/gene/slc5a5 - Genetics
  10. SAR1B gene 
    ... Citation on PubMed Levy E. Insights from human congenital disorders ... Gene Disruption: Insight From Cell Culture. Arterioscler Thromb Vasc Biol. ...
    https://medlineplus.gov/genetics/gene/sar1b - Genetics
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