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.

Expand All
Entries
Topic Review
2q37 Deletion Syndrome
2q37 deletion syndrome is a condition that can affect many parts of the body. Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. Other neurological abnormalities that are common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting and walking; and behavioral problems. About 25 percent of people with this condition have autism spectrum disorder, a developmental condition that affects communication and social interaction.
  • 604
  • 23 Dec 2020
Topic Review
Huntington Disease
Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).
  • 472
  • 23 Dec 2020
Topic Review
HSPG2 Gene
Heparan sulfate proteoglycan 2
  • 400
  • 23 Dec 2020
Topic Review
Horner Syndrome
Horner syndrome is a disorder that affects the eye and surrounding tissues on one side of the face and results from paralysis of certain nerves.
  • 517
  • 23 Dec 2020
Topic Review
Homocystinuria
Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.
  • 484
  • 23 Dec 2020
Topic Review
22q13.3 Deletion Syndrome
22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3.  
  • 554
  • 25 Dec 2020
Topic Review
HSPB8 Gene
Heat shock protein family B (small) member 8
  • 315
  • 23 Dec 2020
Topic Review
Holt-Oram Syndrome
Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.
  • 379
  • 23 Dec 2020
Topic Review
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, which is a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.
  • 278
  • 23 Dec 2020
Topic Review
22q11.2 Deletion Syndrome
22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.  
  • 511
  • 23 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>