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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ADNP Syndrome
ADNP syndrome is a condition that causes a wide variety of signs and symptoms. Its hallmark features are intellectual disability and autism spectrum disorder, which is characterized by impaired communication and social interaction. Affected individuals also have distinctive facial features and abnormalities of multiple body systems.  
  • 844
  • 23 Dec 2020
Topic Review
KCNH2 Gene
Potassium voltage-gated channel subfamily H member 2
  • 462
  • 23 Dec 2020
Topic Review
Mowat-Wilson Syndrome
Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.
  • 475
  • 23 Dec 2020
Topic Review
ADCY5-related Dyskinesia
ADCY5-related dyskinesia is a movement disorder; the term "dyskinesia" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect the limbs, neck, and face.
  • 558
  • 23 Dec 2020
Topic Review
Triosephosphate Isomerase Deficiency
Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function.  
  • 435
  • 23 Dec 2020
Topic Review
KCNE1 Gene
Potassium voltage-gated channel subfamily E regulatory subunit 1
  • 317
  • 23 Dec 2020
Topic Review
Motion Sickness
Motion sickness is a common condition characterized by a feeling of unwellness brought on by certain kinds of movement.
  • 383
  • 23 Dec 2020
Topic Review
KCNA1 Gene
Potassium voltage-gated channel subfamily A member 1
  • 684
  • 23 Dec 2020
Topic Review
Trichothiodystrophy
Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength.
  • 415
  • 23 Dec 2020
Topic Review
ACAD9 Deficiency
ACAD9 deficiency is a condition that varies in severity and can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of a chemical called lactic acid in the body (lactic acidosis). Additional signs and symptoms that affect other body systems occur in rare cases.
  • 407
  • 23 Dec 2020
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