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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PTCH1 Gene
patched 1
  • 538
  • 23 Dec 2020
Topic Review
White-Sutton Syndrome
White-Sutton syndrome is a disorder that causes intellectual disability, specific facial features, and other signs and symptoms affecting various parts of the body. Most affected individuals have features of autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication problems, and repetitive behaviors. However, in White-Sutton syndrome these features can occur along with other characteristics that are unusual in people with ASD, such as an overly friendly demeanor.
  • 948
  • 23 Dec 2020
Topic Review
White Sponge Nevus
White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue.
  • 459
  • 23 Dec 2020
Topic Review
Nemaline Myopathy
Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs.
  • 665
  • 23 Dec 2020
Topic Review
Werner Syndrome
Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging.
  • 614
  • 23 Dec 2020
Topic Review
Weissenbacher-Zweymüller Syndrome
Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are wider than usual at the ends (described as dumbbell-shaped), and the bones of the spine (vertebrae) may also be abnormally shaped. High-frequency hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small and upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). Most people with Weissenbacher-Zweymüller syndrome experience significant "catch-up" growth in the bones of the arms and legs during childhood. As a result, adults with this condition are not unusually short. However, affected adults still have other signs and symptoms of Weissenbacher-Zweymüller syndrome, including distinctive facial features and hearing loss.
  • 444
  • 23 Dec 2020
Topic Review
PSMB8 Gene
proteasome subunit beta 8
  • 322
  • 23 Dec 2020
Topic Review
Weill-Marchesani Syndrome
Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.
  • 514
  • 23 Dec 2020
Topic Review
PSEN1 Gene
presenilin 1
  • 374
  • 23 Dec 2020
Topic Review
Warfarin Sensitivity
Warfarin sensitivity is a condition in which individuals have a low tolerance for the drug warfarin.
  • 444
  • 23 Dec 2020
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