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Results 11 - 20 of 72 for Megalencephaly
  1. 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
  2. RNAse T2-deficient leukoencephalopathy 
    ... and symptoms of the condition. Cystic leukoencephalopathy without megalencephaly LBATC Leukoencephalopathy with bilateral anterior temporal lobe cysts ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - 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. PPP2R5D-related intellectual disability 
    ... intellectual disability have an unusually large head size (macrocephaly), and some have other unusual facial features, including ... variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics. 2016 Jan;17(1): ...
    https://medlineplus.gov/.../ppp2r5d-related-intellectual-disability - Genetics
  9. Lennox-Gastaut syndrome 
    ... of Lennox-Gastaut syndrome. LGS Genetic Testing Registry: Macrocephaly and epileptic encephalopathy Lennox-Gastaut syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY PubMed Arzimanoglou A, French J, ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  10. 9q22.3 microdeletion 
    ... of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving ... syndrome that are present early in life, including macrocephaly and skeletal abnormalities. For basal cell carcinomas and ...
    https://medlineplus.gov/genetics/condition/9q223-microdeletion - Genetics
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