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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Topic Review
7q11.23 Duplication Syndrome
7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities.  
  • 639
  • 23 Dec 2020
Topic Review
Hypomyelination and Congenital Cataract
Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes.
  • 277
  • 23 Dec 2020
Topic Review
Moebius Syndrome
Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth.
  • 459
  • 23 Dec 2020
Topic Review
Townes-Brocks Syndrome
Townes-Brocks syndrome is a genetic condition that affects several parts of the body.
  • 517
  • 23 Dec 2020
Topic Review
ITM2B Gene
Integral membrane protein 2B
  • 426
  • 23 Dec 2020
Topic Review
Hypophosphatasia
Hypophosphatasia is an inherited disorder that affects the development of bones and teeth.
  • 474
  • 23 Dec 2020
Topic Review
Miyoshi Myopathy
Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles that are located away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.
  • 581
  • 23 Dec 2020
Topic Review
Tourette Syndrome
Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood.  
  • 528
  • 23 Dec 2020
Topic Review
Hystrix-Like Ichthyosis with Deafness
Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.
  • 362
  • 23 Dec 2020
Topic Review
ITGB4 Gene
Integrin subunit beta 4
  • 334
  • 23 Dec 2020
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