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Results 51 - 60 of 87 for Megalencephaly
  1. 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
  2. Acrocallosal syndrome 
    ... individuals also have an unusually large head size (macrocephaly). This condition appears to be rare. Only a ...
    https://medlineplus.gov/genetics/condition/acrocallosal-syndrome - Genetics
  3. 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
  4. Chromosome 19 
    ... deletion syndrome include an unusually large head size (macrocephaly), tall stature, delayed development of speech and motor ...
    https://medlineplus.gov/genetics/chromosome/19 - Genetics
  5. 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
  6. MIR17HG gene 
    ... fingers (polydactyly) and an unusually large head size (macrocephaly). Others with these microduplications have impaired growth, leading ...
    https://medlineplus.gov/genetics/gene/mir17hg - Genetics
  7. Cardiofaciocutaneous syndrome 
    ... and adults can include an unusually large head (macrocephaly), short stature, problems with vision, and seizures.The ...
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome - Genetics
  8. Mucopolysaccharidosis type VII 
    ... features of MPS VII include a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vii - Genetics
  9. Mucopolysaccharidosis type III 
    ... facial features, a prominent forehead, a large head (macrocephaly), and thick hair and eyebrows. Some people with ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iii - Genetics
  10. Greig cephalopolysyndactyly syndrome 
    ... eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals ...
    https://medlineplus.gov/.../greig-cephalopolysyndactyly-syndrome - Genetics
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