Chromosome 17q23.1-Q23.2 Deletion Syndrome

Chromosome 17q23.1-Q23.2 Deletion Syndrome(来自ICD-11)
别称:
17q23.1q23.2 Microdeletion Syndrome
Monosomy 17q23.1q23.2
Del(17)(q23.1q23.2)
17q23.1-Q23.2 Microdeletion Syndrome
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome 17q23.1-Q23.2 Deletion Syndrome, also known as 17q23.1q23.2 microdeletion syndrome, is related to progressive myoclonus epilepsy 1b and vertical talus, congenital. An important gene associated with Chromosome 17q23.1-Q23.2 Deletion Syndrome is DEL17Q23.1Q23.2 (Chromosome 17q23.1-Q23.2 Deletion Syndrome). Affiliated tissues include heart and lung, and related phenotypes are delayed speech and language development and moderate global developmental delay
查看原文 参与反馈

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
--
Newborn
<1/1000000
12
88
8

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
Wechat
Comparison
Al agent
Tutorials
Back to top