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Results 1 - 10 of 16 for macrocephalus
Did you mean macrocephaly?
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. PTCH1 gene 
    ... of the feet, an unusually large head size (macrocephaly), and skeletal abnormalities. More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/ptch1 - Genetics
  8. CHD3 gene 
    ... helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 ...
    https://medlineplus.gov/genetics/gene/chd3 - Genetics
  9. AKT3 gene 
    ... MJ. Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/gene/akt3 - Genetics
  10. EZH2 gene 
    ... Some affected individuals have a large head size (macrocephaly). Most of the EZH2 gene mutations associated with ...
    https://medlineplus.gov/genetics/gene/ezh2 - Genetics
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