胼胝体发育不全,伴有周围神经病变
基因病名称(英)
Agenesis of the corpus callosum, with peripheral neuropathy
别名(英)
Andermann's syndrome,Andermann syndrome,Charlevoix disease,Corpus callosum, agenesis of, with neuronopathy,Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum
别名
安德曼综合征,安德曼综合征,Charlevoix 病,胼胝体发育不全,伴有神经元病,多发性神经病,感觉运动,伴有或不伴有胼胝体发育不全
统计
reviewed:1; annotated:0
交叉引用
218000,C0795950,D009421
描述(英)
A disease that is characterized by severe progressive sensorimotor neuropathy, mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum.
描述
一种以严重进行性感觉运动神经病变、智力迟钝、畸形特征和胼胝体完全或部分发育不全为特征的疾病。