由于常染色体上出现突变基因而导致的疾病。
A disease caused by the presence of two recessive mutant genes on an autosome.
遗传性嗜中性白血球减少症是一种常染色体隐性遗传疾病，该疾病导致成体中性粒细胞无法从骨髓迁移到血液中。
Trapped Neutrophil Syndrome is an autosomal recessive disease which results in mature neutrophils being unable to migrate from the bone marrow into the blood.
结节性硬化是一种常染色体显性遗传性疾病。过去临床上主要靠病人有癫痫、智力低下和皮脂腺瘤三大体征来诊断。
Tuberous sclerosis (TS) is an exceptional chromosomal inherited disease, This disease was mainly diagnosed by three clinical appearances: epilepsy, intellectual disturbance, and sebaceous adenoma.
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