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Results 1 - 1 of 1 for "Seizures-scoliosis-macrocephaly" syndrome
  1. EXT2 gene 
    ... gene have been found in a family with seizures-scoliosis-macrocephaly syndrome. In individuals with this condition, seizures typically begin ... tone (hypotonia). The EXT2 gene mutations associated with seizures-scoliosis-macrocephaly syndrome change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/ext2 - Genetics