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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 Recessive 60 (MRT60)
Alias:
Mental Retardation, Autosomal Recessive 60
Mrt60
Autosomal Recessive Intellectual Developmental Disorder 60
Intellectual Disability, Autosomal Recessive 60
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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,常染色体隐性60,也被称为精神发育迟滞,常染色体隐性60。与智力发育障碍,常染色体隐性60有关的重要基因是TAF13(TATA-Box Binding Protein Associated Factor 13)。相关组织包括骨和脑,相关表型为全球发育延迟和延迟骨骼成熟。
Related ID:
MALACARDS:INT553
OMIM:617432
MESH:D008607
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
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Reference
MALACARDS
常隐
未知
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1
3
1
INT553
Medical Symptom
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Description
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Gene & Mutation
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