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Results 1 - 1 of 1 for Progressive macrocephaly
  1. CACNA1A gene 
    ... deletion syndrome include an unusually large head size (macrocephaly), tall stature, intellectual disability, seizures, ataxia, and other ... JC, Baloh RW. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. Neurology. 2005 ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics