肢端胼胝体综合征
基因病名称(英)
Acrocallosal syndrome
别名(英)
Hallux duplication postaxial polydactyly and absence of corpus callosum,Schinzel acrocallosal syndrome
别名
拇趾重复轴后多指和胼胝体缺失，Schinzel 肢端胼胝体综合征
统计
reviewed:1; annotated:0
交叉引用
200990,C0796147,C2931760,D055673
描述(英)
An autosomal recessive syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and mental retardation.
描述
一种以胼胝体发育不全或发育不全为特征的常染色体隐性遗传综合征。临床特征包括轴后多指、拇趾重复、大头畸形、颅面畸形、严重发育迟缓和智力迟钝。