Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome (MCHCCD)

Alias:
Microcephaly-Cerebellar Hypoplasia-Cardiac Conduction Defect Syndrome
Microcephaly-Cerebellar Hypoplasia-Congenital Heart Conduction Defect Syndrome
Zaki-Gleeson Syndrome
Mchccd
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
小头畸形、小脑发育不全和心脏传导缺陷综合症,也称为小头畸形-小脑发育不全-心脏传导缺陷综合症,症状包括动作震颤和共济失调,躯干。附属组织包括心脏和皮肤,相关表型为高反射和发育不良

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
--
--
1

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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