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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Intellectual Developmental Disorder, Autosomal Dominant 39 (MRD39)
Alias:
Mrd39
Myt1l-Related Developmental Delay-Intellectual Disability-Obesity Syndrome
Autosomal Dominant Non-Syndromic Intellectual Disability 39
Autosomal Dominant Intellectual Developmental Disorder 39
Mental Retardation, Autosomal Dominant 39, and Obesity
Mental Retardation, Autosomal Dominant, Type 39
Intellectual Disability, Autosomal Dominant 39
Mental Retardation, Autosomal Dominant 39
Autosomal Dominant Mental Retardation 39
Myt1l-Related Prader-Willi-Like Syndrome
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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39,也被称为mrd39。与智力发育障碍,常染色体显性39相关的基因是MYT1L(髓鞘转录因子1类似物)。相关组织包括大脑和下丘脑,相关表型包括智力障碍和全球发育延迟。
Related ID:
MALACARDS:INT475
OMIM:616521
MESH:D008607
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
6
8
INT475
Medical Symptom
#
Categorization
Description
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Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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No data available
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Name
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No data available
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Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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IF
No Data Found!
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