Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism.
枫糖尿症是支链氨基酸代谢异常的体染色体隐性遗传疾病。
Result: ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.
结果：①ATD是一种少见的常染色体隐性遗传性骨软骨发育不良疾病。
Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.
先天性小眼球是一种先天发育异常性眼科疾病，遗传方式有常染色体显性遗传、常染色体隐性遗传和X连锁隐性遗传。
Conclusions: EBS-WC is an autosomal dominant genetic disorder with no special treatment. The diagnosis of this condition can be confirmed by the electron microscopy.
结论：EBS - WC主要是常染色体显性遗传性疾病，目前尚无有效的治疗方法，确诊需依靠电镜检查。
Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.
遗传性无纤维蛋白原血症是一种由于纤维蛋白原基因缺陷所致常染色体隐性遗传病。
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。
A disorder of lipid metabolism that is inherited as an autosomal recessive trait.
油脂新陈代谢混乱的一种遗传病症。
A disorder of lipid metabolism that is inherited as an autosomal recessive trait.
油脂新陈代谢混乱的一种遗传病症。
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