无脑回畸形3型-家族性胎儿运动机能丧失序列综合征

定义 英文原文（暂无中文）

Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.

基本事实

遗传方式

常染色体隐性

发病年龄

产前

患病率

<1 / 1 000 000

外部标识与链接