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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Fukuyama Congenital Muscular Dystrophy
Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life.
  • 519
  • 24 Dec 2020
Topic Review
MN1 C-Terminal Truncation Syndrome
MN1 C-terminal truncation (MCTT) syndrome is a condition characterized by intellectual disability, developmental delay, distinctive facial features, and brain abnormalities.
  • 650
  • 23 Dec 2020
Topic Review
Snijders Blok-Campeau Syndrome
Snijders Blok-Campeau syndrome is characterized by intellectual disability, speech problems, and distinctive facial features.  
  • 2.9K
  • 23 Dec 2020
Topic Review
GLDC Gene
Glycine Decarboxylase
  • 395
  • 23 Dec 2020
Topic Review
MEFV Gene
MEFV, pyrin innate immunity regulator
  • 431
  • 22 Dec 2020
Topic Review
MED12 Gene
mediator complex subunit 12
  • 296
  • 22 Dec 2020
Topic Review
MEGDEL Syndrome
MEGDEL syndrome is an inherited disorder that affects multiple body systems. It is named for several of its features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), and Leigh-like disease (L).
  • 1.3K
  • 23 Dec 2020
Topic Review
Fuchs Endothelial Dystrophy
Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.
  • 466
  • 23 Dec 2020
Topic Review
MECP2 Gene
methyl-CpG binding protein 2
  • 352
  • 22 Dec 2020
Topic Review
SRCAP Gene
Snf2 related CREBBP activator protein
  • 459
  • 22 Dec 2020
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