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Results 1 - 10 of 176 for normal variant
  1. ... are severely deficient. Risks Associated With Common Genetic Variants Normal (MM): Does not have the disorder and does ...
  2. Growth and Your 2- to 3-Year-Old (Nemours Foundation)  
    ... chart are usually following one of these two normal variant growth patterns: Familial (genetic) short stature. These kids have inherited genes for short stature from their parents. Usually one or ... they grow at a normal rate and are otherwise healthy, showing no symptoms ...
  3. Genetics Home Reference: Dense deposit disease From the National Institutes of Health (National Library of Medicine)  
    ... only a small percentage of all cases. Several normal variants (polymorphisms) in the C3 , CFH , and CFHR5 genes ...
  4. Detection of a Heart Defect in the Fetus (American Heart Association)  
    ... sonographer is doing the ultrasound which is a normal variant. It is also very common for the fetus ...
  5. Genetics Home Reference: 3-M syndrome From the National Institutes of Health (National Library of Medicine)  
    ... 3-M syndrome, and life expectancy is generally normal. A variant of 3-M syndrome called Yakut short stature ...
  6. Genetics Home Reference: Alpha thalassemia From the National Institutes of Health (National Library of Medicine)  
    ... of alpha-globin. Because cells still produce some normal hemoglobin, these variants tend to cause few or no health problems. ...
  7. Alpha-1 Antitrypsin Test (American Association for Clinical Chemistry)  
    ... which SERPINA1 gene alleles are present, including the normal wild type M allele or variant alleles. This test does not identify every variant, ... is produced and which variant is present. A variant with very low activity may lead ... copies of the normal wild type (MM) gene and produce sufficient AAT. ...
  8. Genetics Home Reference: Vohwinkel syndrome From the National Institutes of Health (National Library of Medicine)  
    ... the envelope of some corneocytes is thinner than normal in affected individuals, resulting in ichthyosis and the other skin abnormalities associated with the variant form of Vohwinkel syndrome. Read more about the ...
  9. ... undescended testes (cryptorchidism). Females with this condition have normal genitalia. Missing or underdeveloped patellae is the most common skeletal abnormality associated with the SBBYS variant of Ohdo syndrome. Affected individuals also have joint ...
  10. Learning about Alpha-1 Antitrypsin Deficiency (AATD) From the National Institutes of Health (National Human Genome Research Institute)  
    ... allele of the alpha-1 gene. It produces normal levels of the alpha-1 antitrypsin protein. The Z gene is the most common variant of the gene. It causes alpha-1 antitrypsin ...
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