Intellectual Developmental Disorder, Autosomal Dominant 21 (MRD21)

Alias:
Mrd21
Autosomal Dominant Intellectual Developmental Disorder 21
Mental Retardation, Autosomal Dominant 21
Ctcf-Related Neurodevelopmental Disorder
Intellectual Disability-Feeding Difficulties-Developmental Delay-Microcephaly Syndrome
Autosomal Dominant Non-Syndromic Intellectual Disability 21
Mental Retardation, Autosomal Dominant, Type 21
Autosomal Dominant Mental Retardation 21
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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
智力发育障碍,常染色体显性21型,也称为mrd21,与银-瑞斯综合征1和科尼利亚-德朗格综合征有关。与智力发育障碍,常染色体显性21型有关的重要基因是CTCF(CCCTC结合因子)。相关组织包括肺和眼,相关表型为智力障碍和发育不良。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
<1/1000000
10
50
8

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
Year
IF
No Data Found!
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