autosomal recessive disorder

Wilson 's disease ( WD ), an autosomal recessive disorder , is caused by copper accumulation resulted in subsequent damage to liver and brain .

Wilson病是一种由铜蓄积引起肝脑损害的常染色体隐性遗传病。

Multiple carboxylase deficiency ( MCD ) is an autosomal recessive disorder of inherited metabolic diseases .

多种羧化酶缺陷症（MCD）是一种常染色体隐性遗传的先天遗传代谢性疾病。

Oculocutaneous albinism type ⅱ( OCA2 ), the most common type of albinism , is an autosomal recessive disorder .

眼皮肤白化病Ⅱ型（OCA2）是白化病中最常见的类型，呈常染色体隐性遗传。

Background and purpose : Congenital adrenal hyperplasia ( CAH ) is a group of autosomal recessive disorder . It is one of the commonest genetic endocrinological diseases .

背景与目的：先天性肾上腺增生症（congenitaladrenalhyperplasia，CAH）是一组常染色体隐形遗传疾病，是最常见的遗传性内分泌疾病之一。

As the Wilson disease ( WD ) is an autosomal recessive disorder caused by the deficiency of the P-type ATPase ( ATP7B ) . So molecular biological assay is helpful for differential diagnosis of pre-symptomatic WD patients and carriers .

肝豆状核变性病（Wilsondisease，WD）是由于P型ATP7B酶缺陷引起的常染色体隐性遗传性疾病，分子生物学方法有助于鉴别WD患者家系中症状前患者和杂合子。

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。

Background : Infantile neuroaxonal dystrophy ( INAD ) is a rare autosomal recessive neurodegenerative disorder involving axons in both central and peripheral nervous system .

婴儿神经轴索营养不良（InfantileNeuroaxonalDystrophy，INAD，MIM256600）是一种累及中枢及外周神经系统的进展性的神经系统变性病，为一种罕见的常染色体隐性遗传病。