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Results 1 - 8 of 8 for Polymicrogyria
  1. TUBB2B gene 
    ... of the extraocular muscles (CFEOM) called CFEOM3 with polymicrogyria. Individuals with this condition are unable to move ... addition, affected individuals have a brain malformation called polymicrogyria, in which the surface of the brain develops ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  2. ADGRG1 gene 
    ... identified in people with a severe form of polymicrogyria called bilateral frontoparietal polymicrogyria (BFPP). This disorder causes intellectual disability, delayed development, ...
    https://medlineplus.gov/genetics/gene/adgrg1 - Genetics
  3. CCND2 gene 
    ... CCND2 gene have been found to cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. This rare condition affects ... megalencephaly) and a brain abnormality called bilateral perisylvian polymicrogyria (BPP). Some affected individuals also have an extra ...
    https://medlineplus.gov/genetics/gene/ccnd2 - Genetics
  4. PIK3R2 gene 
    ... PIK3R2 gene have been found to cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. This rare condition affects ... to cause a brain abnormality called bilateral perisylvian polymicrogyria (BPP). The surface of the brain normally has ...
    https://medlineplus.gov/genetics/gene/pik3r2 - Genetics
  5. AKT3 gene 
    ... AKT3 gene have been found to cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. This rare condition affects ... GM. Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. Mol Genet Metab. 2015 Mar; ...
    https://medlineplus.gov/genetics/gene/akt3 - Genetics
  6. DYNC1H1 gene 
    ... affected individuals often have a brain malformation called polymicrogyria. Normally, the surface of the brain has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the ...
    https://medlineplus.gov/genetics/gene/dync1h1 - Genetics
  7. TUBB3 gene 
    ... R, Pilz DT, Cushion TD. Tubulin genes and malformations of cortical development. Eur J Med Genet. 2018 Dec;61(12): ... Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016 Feb;170A( ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  8. TUBA1A gene 
    ... W. TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 2011 Mar 15;76(11):988-92. ...
    https://medlineplus.gov/genetics/gene/tuba1a - Genetics