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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Niemann-Pick Disease
Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.
  • 333
  • 24 Dec 2020
Topic Review
Nicolaides-Baraitser Syndrome
Nicolaides-Baraitser syndrome is a condition that affects many body systems. Affected individuals can have a wide variety of signs and symptoms, but the most common are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly), recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development.
  • 582
  • 24 Dec 2020
Topic Review
Central Precocious Puberty
Central precocious puberty is a condition that causes early sexual development in girls and boys.
  • 421
  • 20 Apr 2023
Topic Review
Neuropathy, Ataxia, and Retinitis Pigmentosa
Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system.
  • 373
  • 24 Dec 2020
Topic Review
Central Core Disease
Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from barely noticeable to very severe. The severity of muscle weakness may differ even among affected members of the same family.
  • 413
  • 24 Dec 2020
Topic Review
WDR35 Gene
WD repeat domain 35.
  • 384
  • 24 Dec 2020
Topic Review
Proximal 18q Deletion Syndrome
Proximal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. The term "proximal" means that the missing piece occurs near the center of the chromosome. Individuals with proximal 18q deletion syndrome have a wide variety of signs and symptoms. Because only a small number of people are known to have this type of deletion, it can be difficult to determine which features should be considered characteristic of the disorder.
  • 454
  • 24 Dec 2020
Topic Review
Caudal Regression Syndrome
Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.
  • 338
  • 24 Dec 2020
Topic Review
WDR19 Gene
WD repeat domain 19.
  • 312
  • 24 Dec 2020
Topic Review
VRK1 Gene
VRK serine/threonine kinase 1.
  • 382
  • 24 Dec 2020
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