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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 107 (XLID107)
Alias:
Xlid107
Mrx107
Mental Retardation, X-Linked, Type 107
Intellectual Disability, X-Linked 107
Mental Retardation, X-Linked 107
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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107,也称为xlid107,与非综合征性X连锁智力障碍107有关。与智力发育障碍,X连锁107有关的重要基因是STEEP1(STING1 ER出口蛋白1)。相关表型为智力障碍和全球发育延迟。
Related ID:
MALACARDS:INT445
OMIM:301013
MESH:D038901
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
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Reference
MALACARDS
X显
X染色体
X隐
未知
--
1
4
1
INT445
Medical Symptom
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Description
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Orphanet Frequency
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No data available
Gene & Mutation
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No data available
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Name
MGI
Related Gene
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Publications
No data available
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IF
No Data Found!
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