It was reported that truncated mutations in this gene can cause primary microcephaly in humans with a brain size comparable with that of early hominids.

前人的研究表明，该基因突变失活以后，会引发人类原发性小脑症，病人的脑容量仅有正常人的三分之一到四分之一，相当于早期类人猿的脑容量。

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Mutation of CPAP induces a neuro-developmental disorder named MCPH (autosomal recessive primary microcephaly) that causes a great reduction in brain growth in human.

CPAP的某些突变诱导神经发育紊乱疾病“常染色体隐性小脑畸形(MCPH)”导致人类大脑生长的严重缩小。

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