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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Klippel-Trenaunay Syndrome
Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.
  • 382
  • 23 Dec 2020
Topic Review
LYST Gene
Lysosomal trafficking regulator
  • 1.3K
  • 23 Dec 2020
Topic Review
Kniest Dysplasia
Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing.
  • 301
  • 23 Dec 2020
Topic Review
Knobloch Syndrome
Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect.
  • 332
  • 23 Dec 2020
Topic Review
LRRK2 Gene
Leucine rich repeat kinase 2
  • 367
  • 23 Dec 2020
Topic Review
Koolen-de Vries Syndrome
Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy).
  • 440
  • 23 Dec 2020
Topic Review
Action Myoclonus–Renal Failure Syndrome
Action myoclonus–renal failure (AMRF) syndrome causes episodes of involuntary muscle jerking or twitching (myoclonus) and, often, kidney (renal) disease. Although the condition name refers to kidney disease, not everyone with the condition has problems with kidney function.
  • 3.6K
  • 23 Dec 2020
Topic Review
Krabbe Disease
Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system. Myelin is the protective covering around nerve cells that ensures the rapid transmission of nerve signals. Krabbe disease is also characterized by abnormal cells in the brain called globoid cells, which are large cells that usually have more than one nucleus.
  • 394
  • 23 Dec 2020
Topic Review
LRP5 Gene
LDL receptor related protein 5
  • 393
  • 23 Dec 2020
Topic Review
Müllerian Aplasia and Hyperandrogenism
Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females.
  • 376
  • 23 Dec 2020
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