多发性神经病-智力障碍-肢端过小症-过早绝经综合征

定义 英文原文（暂无中文）

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.

别名

Lundberg综合征

基本事实

发病年龄

成年期

患病率

<1 / 1 000 000

临床表型 15

外部标识与链接