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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16p11.2 Duplication
16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). The duplication occurs near the middle of the chromosome at a location designated p11.2. This duplication can have a variety of effects. Common characteristics that occur in people with a 16p11.2 duplication include a low weight; a small head size (microcephaly); and developmental delay, especially in speech and language. Affected individuals also have an increased risk of behavioral problems. However, some people with the duplication have no identified physical or behavioral abnormalities.
  • 862
  • 23 Dec 2020
Topic Review
Succinate-CoA Ligase Deficiency
Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems.
  • 557
  • 23 Dec 2020
Topic Review
16p11.2 deletion syndrome
16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2.  
  • 693
  • 10 Apr 2021
Topic Review
Stormorken syndrome
Stormorken syndrome is a rare condition that affects many body systems.
  • 623
  • 23 Dec 2020
Topic Review
Subcortical Band Heterotopia
Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development.
  • 454
  • 23 Dec 2020
Topic Review
Stüve-Wiedemann Syndrome
Stüve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature.
  • 503
  • 23 Dec 2020
Topic Review
Sturge-Weber Syndrome
Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Sturge-Weber syndrome has three major features: a red or pink birthmark called a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in the eye (glaucoma). These features can vary in severity and not all individuals with Sturge-Weber syndrome have all three features.  
  • 456
  • 23 Dec 2020
Topic Review
Stickler syndrome
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.  
  • 662
  • 23 Dec 2020
Topic Review
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis
Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end.  
  • 439
  • 23 Dec 2020
Topic Review
Steatocystoma Multiplex
Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas.
  • 596
  • 23 Dec 2020
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