Summary

MedlinePlus is an online health information resource. It is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). To promote the transmission of knowledge, this entry collection contains information about the effects of genetic variation on human health transferred from MedlinePlus.

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Mevalonate Kinase Deficiency
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.
  • 356
  • 23 Dec 2020
Topic Review
NF2 Gene
neurofibromin 2
  • 354
  • 23 Dec 2020
Topic Review
3q29 Microdeletion Syndrome
3q29 microdeletion syndrome (also known as 3q29 deletion syndrome) is a condition that results from the deletion of a small piece of chromosome 3 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q29.
  • 790
  • 23 Dec 2020
Topic Review
NF1 Gene
neurofibromin 1
  • 403
  • 23 Dec 2020
Topic Review
IGF2 Gene
Insulin like growth factor 2
  • 517
  • 23 Dec 2020
Topic Review
3p Deletion Syndrome
3p deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 3 is deleted in each cell. The deletion occurs at the end of the short (p) arm of the chromosome. This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features.
  • 2.7K
  • 23 Dec 2020
Topic Review
Methylmalonic Acidemia with Homocystinuria
Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol.
  • 342
  • 23 Dec 2020
Topic Review
NDP Gene
NDP, norrin cystine knot growth factor
  • 322
  • 23 Dec 2020
Topic Review
3-methylglutaconyl-CoA Hydratase Deficiency
3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain.
  • 448
  • 23 Dec 2020
Topic Review
Methylmalonic Acidemia
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.
  • 370
  • 23 Dec 2020
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