非肢端点状软骨发育异常

定义 英文原文（暂无中文）

Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Non-rhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.

基本事实

遗传方式

常染色体显性、常染色体隐性、X 连锁显性、X 连锁隐性

发病年龄

婴儿期、新生儿期

相关基因 2来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

外部标识与链接