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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
非罕见病
Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures (MRD60)
Alias:
Intellectual Developmental Disorder 60 with Seizures
Mrd60
Mental Retardation, Autosomal Dominant 60, with Seizures
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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60,伴有癫痫,也被称为智力发育障碍60伴有癫痫。与智力发育障碍,常染色体显性60,伴有癫痫有关的重要基因是AP2M1(适应蛋白复合物2亚基Mu 1)。相关表型是智力障碍和全身性肌张力减退。
Related ID:
MALACARDS:INT387
OMIM:618587
MESH:D008607
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
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MALACARDS
常显
未知
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1
4
1
INT387
Medical Symptom
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Description
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Gene & Mutation
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