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Results 71 - 80 of 87 for Megalencephaly
  1. Nonsyndromic holoprosencephaly 
    ... the brain (hydrocephalus) that causes increased head size (macrocephaly). Other features may include an opening in the ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
  2. PPP2R5D gene 
    ... variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics. 2016 Jan;17(1): ...
    https://medlineplus.gov/genetics/gene/ppp2r5d - Genetics
  3. AMER1 gene 
    ... multiple skeletal abnormalities including an unusually large head (macrocephaly) and abnormal facial features. Males who survive infancy ...
    https://medlineplus.gov/genetics/gene/amer1 - Genetics
  4. Chromosome 1 
    ... 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics
  5. WWP1 gene 
    ... of Cowden syndrome can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte- ...
    https://medlineplus.gov/genetics/gene/wwp1 - Genetics
  6. RNASET2 gene 
    ... and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. ...
    https://medlineplus.gov/genetics/gene/rnaset2 - Genetics
  7. PURA gene 
    ... Pur-alpha alters postnatal brain development and causes megalencephaly. Hum Mol Genet. 2012 Feb 1;21(3): ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
  8. GLI3 gene 
    ... a broad forehead, and an unusually large head (macrocephaly). The genetic changes associated with Greig cephalopolysyndactyly syndrome ...
    https://medlineplus.gov/genetics/gene/gli3 - Genetics
  9. KRAS gene 
    ... facial features, short stature, an unusually large head (macrocephaly), and hair that is sparse and thin.At ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  10. Congenital toxoplasmosis 
    ... hydrocephalus ) Swollen lymph nodes ( lymphadenopathy ) Large head size ( macrocephaly ) or smaller-than-normal head size ( microcephaly ) Tests ...
    https://medlineplus.gov/ency/article/001360.htm - Medical Encyclopedia
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