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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Mandibulofacial Dysostosis with Microcephaly
Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Affected individuals have developmental delay and intellectual disability that can range from mild to severe. Speech and language problems are also common in this disorder.
  • 512
  • 23 Dec 2020
Topic Review
Spastic Paraplegia Type 2
Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 2 can occur in either the pure or complex form.  
  • 563
  • 23 Dec 2020
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MLH1 Gene
mutL homolog 1
  • 450
  • 22 Dec 2020
Topic Review
Mandibuloacral Dysplasia
Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution.
  • 321
  • 23 Dec 2020
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Malignant Hyperthermia
Malignant hyperthermia is a severe reaction to particular anesthetic drugs that are often used during surgery and other invasive procedures.
  • 366
  • 23 Dec 2020
Topic Review
Mal de Meleda
Mal de Meleda is a rare skin disorder that begins in early infancy.
  • 292
  • 23 Dec 2020
Topic Review
MKRN3 Gene
makorin ring finger protein 3
  • 362
  • 22 Dec 2020
Topic Review
MITF Gene
melanocyte inducing transcription factor
  • 354
  • 22 Dec 2020
Topic Review
Mainzer-Saldino Syndrome
Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities.
  • 712
  • 23 Dec 2020
Topic Review
MIR17HG Gene
miR-17-92a-1 cluster host gene
  • 353
  • 22 Dec 2020
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