共济失调-动眼神经失用综合征
基因病名称(英)
Ataxia-oculomotor apraxia syndrome
别名(英)
AOA1,Ataxia early-onset with oculomotor apraxia and hypoalbuminemia,Ataxia-oculomotor apraxia 1,Cerebellar ataxia early-onset with hypoalbuminemia,EAOH,EOCA-HA
别名
AOA1，早发性共济失调伴动眼神经失用和低白蛋白血症，共济失调-动眼运动失用1，小脑性共济失调早发性低白蛋白血症，EAOH，EOCA-HA
统计
reviewed:1; annotated:0
交叉引用
208920,C1859598,D001072,D002524
描述(英)
An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.
描述
一种常染色体隐性遗传综合征，以早发性小脑共济失调、动眼神经失用、早期反射消失和晚期周围神经病变为特征。