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Results 41 - 50 of 72 for Megalencephaly
  1. 7q11.23 duplication syndrome 
    ... the head and face, including a large head (macrocephaly) that is flattened in the back (brachycephaly), a ...
    https://medlineplus.gov/.../condition/7q1123-duplication-syndrome - Genetics
  2. Glutaric acidemia type I 
    ... type I are born with unusually large heads (macrocephaly). Affected individuals may have difficulty moving and may ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  3. Legius syndrome 
    ... Legius syndrome may include an abnormally large head (macrocephaly) and unusual facial characteristics. Although most people with ...
    https://medlineplus.gov/genetics/condition/legius-syndrome - Genetics
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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