Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type (MRXSC)

Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type(来自ICD-11)
别称:
Cabezas Syndrome
Mental Retardation, X-Linked, Syndromic 15
Mental Retardation, X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait
Mental Retardation, X-Linked, with Short Stature
X-Linked Intellectual Disability, Cabezas Type
X-Linked Intellectual Disability Cabezas Type
Mrxs15
Mrxsc
Mrss
Intellectual Developmental Disorder, X-Linked Syndromic, Cabezas Type
Mental Retardation, X-Linked, Syndromic, Cabezas Type
Intellectual Deficit, X-Linked, Cabezas Type
Mrxhf2
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type, also known as cabezas syndrome, is related to syndromic x-linked intellectual disability cabezas type and hypogonadism, and has symptoms including tremor and gait ataxia. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type is CUL4B (Cullin 4B). Affiliated tissues include testes and skin, and related phenotypes are short neck and inguinal hernia
查看原文 参与反馈
相关ID:

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
XL
XLD
Child
<1/1000000
1
6
15

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