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Results 1 - 10 of 21 for Megalencephaly
  1. AKT3 gene 
    ... the AKT3 gene have been found to cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. This rare condition ... causing an unusually large brain and head size (megalencephaly) and other abnormalities of the brain's structure. ...
    https://medlineplus.gov/genetics/gene/akt3 - Genetics
  2. PIK3R2 gene 
    ... the PIK3R2 gene have been found to cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. This rare condition ... causing an unusually large brain and head size (megalencephaly) and other abnormalities of the brain's structure. ...
    https://medlineplus.gov/genetics/gene/pik3r2 - Genetics
  3. PTEN gene 
    ... of this condition include a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called ... what role PTEN gene mutations play in causing macrocephaly and the other features of Bannayan-Riley-Ruvalcaba ...
    https://medlineplus.gov/genetics/gene/pten - Genetics
  4. CCND2 gene 
    ... the CCND2 gene have been found to cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. This rare condition ... causing an unusually large brain and head size (megalencephaly) and a brain abnormality called bilateral perisylvian polymicrogyria ( ...
    https://medlineplus.gov/genetics/gene/ccnd2 - Genetics
  5. EXT2 gene 
    ... been found in a family with seizures-scoliosis-macrocephaly syndrome. In individuals with this condition, seizures typically ... of the spine (scoliosis), an unusually large head (macrocephaly), intellectual disability, and weak muscle tone (hypotonia). The ...
    https://medlineplus.gov/genetics/gene/ext2 - Genetics
  6. MTOR gene 
    ... have a head that is larger than normal (macrocephaly), intellectual disability, and seizures. Affected individuals can also ... growth and development and synaptic plasticity, leading to macrocephaly, intellectual disability, seizures, and other neurological problems in ...
    https://medlineplus.gov/genetics/gene/mtor - Genetics
  7. PIK3CA gene 
    ... been found to cause a condition known as megalencephaly-capillary malformation syndrome (MCAP), which is characterized by overgrowth of the brain (megalencephaly) and abnormalities caused by enlargement of small blood ...
    https://medlineplus.gov/genetics/gene/pik3ca - Genetics
  8. OFD1 gene 
    ... severe intellectual disability, an unusually large head size (macrocephaly), and breathing problems. This OFD1 gene mutation leads ... novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial- ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  9. HEPACAM gene 
    ... causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/hepacam - Genetics
  10. CACNA1A gene 
    ... deletion syndrome include an unusually large head size (macrocephaly), tall stature, intellectual disability, seizures, ataxia, and other ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
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