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Results 1 - 10 of 14 for Andermann syndrome
  1. Andermann syndrome 
    Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). The neuropathy in this condition ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
  2. SLC12A6 gene 
    ... variants (mutations) have been identified in people with Andermann syndrome. This condition damages the nerves used for muscle ... northeastern Quebec. Most SLC12A6 gene variants that cause Andermann syndrome result in a KCC3 protein that is shortened ...
    https://medlineplus.gov/genetics/gene/slc12a6 - Genetics
  3. Brain Malformations (National Library of Medicine)  
    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's ...
    https://medlineplus.gov/brainmalformations.html - Health Topics
  4. Degenerative Nerve Diseases (National Library of Medicine)  
    Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. ...
    https://medlineplus.gov/degenerativenervediseases.html - Health Topics
  5. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... spastic ataxia of Charlevoix-Saguenay , also called ARSACS Andermann syndrome , also called agenesis of the corpus callosum with ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  6. GNS gene 
    ... Liebaers I, Veilleux M, Andermann F, Hegele RA, Andermann E. Sanfilippo syndrome type D: natural history and identification of 3 ...
    https://medlineplus.gov/genetics/gene/gns - Genetics
  7. Polymicrogyria 
    ... or Free article on PubMed Central Jansen A, Andermann E. Genetics of the polymicrogyria syndromes. J Med Genet. 2005 May;42(5):369- ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  8. FLNA gene 
    ... Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25;64(2):254-62. ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  9. Action myoclonus–renal failure syndrome 
    ... Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic ... failure syndrome and evaluation of SCARB2 mutations in isolated AMRF ...
    https://medlineplus.gov/.../action-myoclonus-renal-failure-syndrome - Genetics
  10. SCARB2 gene 
    ... gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum ... J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, ...
    https://medlineplus.gov/genetics/gene/scarb2 - Genetics
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