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Results 21 - 30 of 363 for Brain disorder
  1. MT-TV gene 
    ... a rare cause of Leigh syndrome, a progressive brain disorder that typically appears in infancy or early childhood. ...
    https://medlineplus.gov/genetics/gene/mt-tv - Genetics
  2. MT-ND4 gene 
    ... number of people with Leigh syndrome, a progressive brain disorder that typically appears in infancy or early childhood. ...
    https://medlineplus.gov/genetics/gene/mt-nd4 - Genetics
  3. FKRP gene 
    ... the FKRP gene are associated with muscle eye brain disease, which causes muscle weakness, eye problems, and intellectual disability. The signs and symptoms of muscle eye brain disease are less severe than those of Walker-Warburg ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  4. POMT2 gene 
    ... severe forms of muscular dystrophy, including muscle-eye-brain disease and POMT2-related congenital muscular dystrophy (also known as MDDGB2). Muscle-eye-brain disease is similar to Walker-Warburg syndrome (described above), ...
    https://medlineplus.gov/genetics/gene/pomt2 - Genetics
  5. POMT1 gene 
    ... severe forms of muscular dystrophy, including muscle-eye-brain disease and POMT1-related congenital muscular dystrophy (also known as MDDGB1). Muscle-eye-brain disease is similar to Walker-Warburg syndrome (described above), ...
    https://medlineplus.gov/genetics/gene/pomt1 - Genetics
  6. SLC2A1 gene 
    ... expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010 Mar;133(Pt 3):655-70. doi: ...
    https://medlineplus.gov/genetics/gene/slc2a1 - Genetics
  7. CDKL5 gene 
    ... CDKL5 and MeCP2 proteins may interact in the brain, the two disorders might be caused by a similar mechanism.Mutations ... of CDKL5 or impairment of its function disrupts brain development, but it is ... disorder.Most CDKL5 gene mutations change single protein building ...
    https://medlineplus.gov/genetics/gene/cdkl5 - Genetics
  8. ABAT gene 
    ... people with GABA-transaminase deficiency, which is a brain disease (encephalopathy) that begins in infancy. Babies with this ... S, Mathuranath PS, Taly AB. Hypersomnolence-hyperkinetic movement disorder in a ... aminotransferase (ABAT) gene. Brain Dev. 2017 Feb;39(2):161-165. doi: ...
    https://medlineplus.gov/genetics/gene/abat - Genetics
  9. GTF2I gene 
    ... Implications for Williams-Beuren syndrome and autism spectrum disorder. Brain Behav. 2017 Dec 19;8(1):e00895. doi: ...
    https://medlineplus.gov/genetics/gene/gtf2i - Genetics
  10. ARID1B gene 
    ... Walsh CA. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 Dec 2;88(5):910-917. doi: 10.1016/j.neuron.2015.11.009. Citation on PubMed or Free ... SWItching from malignancies to intellectual disability. Epigenetics. 2012 ...
    https://medlineplus.gov/genetics/gene/arid1b - Genetics
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