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Results 1 - 10 of 39 for Brain atrophy
  1. CLPB gene 
    ... RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  2. OPA1 gene 
    ... early childhood. Individuals with Behr syndrome develop optic atrophy, brain dysfunction (encephalopathy), loss of sensation and weakness in ... OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain. 2008 Feb;131(Pt 2):338-51. doi: ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  3. CISD2 gene 
    ... that carry information from the eyes to the brain (optic atrophy), and a number of other features involving the urinary tract, the brain, and hearing. People with this CISD2 gene mutation ...
    https://medlineplus.gov/genetics/gene/cisd2 - Genetics
  4. WFS1 gene 
    ... that carry information from the eyes to the brain (optic atrophy), and a number of other features involving the urinary tract, the brain, and hearing. Typically, variants in both copies of ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  5. SLC19A3 gene 
    ... begins in early infancy and causes seizures and brain deterioration (atrophy). A small number of individuals with signs and ...
    https://medlineplus.gov/genetics/gene/slc19a3 - Genetics
  6. MFN2 gene 
    ... that carry information from the eyes to the brain (optic atrophy).It is unclear how MFN2 gene mutations lead ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  7. FGFR3 gene 
    ... the brain (corpus callosum), and a loss of brain cells (cortical atrophy). It is thought that the neurological problems occur because the somatic variant affects brain cells in addition to cells in the skin. ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  8. TUBB4A gene 
    ... help control movements, affected individuals can have breakdown (atrophy) of brain tissue in these regions, movement abnormalities, difficulty swallowing ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  9. COQ2 gene 
    ... Levels of coenzyme Q10 are reduced in the brains of people with multiple system atrophy. However, the COQ2 gene variations associated with an ... related to the specific features of multiple system atrophy. More About This ... most often the brain, muscles, and kidneys. The COQ2 gene mutations associated ...
    https://medlineplus.gov/genetics/gene/coq2 - Genetics
  10. OPA3 gene 
    ... atrophy and cannot transmit visual information to the brain. Loss of retinal ganglion cells and optic nerve atrophy contribute to vision impairment in people with autosomal ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
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