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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, X-Linked, Syndromic, Hedera Type (MRXSH)
Alias:
Mrxsh
Mental Retardation, X-Linked, Syndromic, Hedera Type
Mrxe
Intellectual Developmental Disorder, X-Linked Syndromic, Hedera Type
Syndromic X-Linked Intellectual Disability Hedera Type
X-Linked Intellectual Disability, Hedera Type
Mental Retardation, X-Linked, with Epilepsy
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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,X连锁,伴有综合征的海德拉型,也称为mrxsh,与伴有综合征的X连锁智力障碍海德拉型有关。与智力发育障碍,X连锁,伴有综合征,海德拉型有关的重要基因是ATP6AP2(ATPase H+ Transporting Accessory Protein 2)。附属组织包括大脑,相关表型为智力障碍和双侧强直阵挛发作。
Related ID:
MALACARDS:INT415
OMIM:300423
MESH:D038901
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
婴儿期
<1/1000000
1
8
4
INT415
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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