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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 72 (XLID72)
Alias:
Xlid72
Mrx72
Mental Retardation, X-Linked, Type 72
Intellectual Disability, X-Linked 72
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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72,也称为xlid72,与非综合征性X连锁智力障碍72和脆性X综合征有关。与智力发育障碍,X连锁72有关的重要基因是RAB39B(RAB39B,RAS癌基因家族成员)。附属组织包括大脑,相关表型为智力障碍和大头症
Related ID:
MALACARDS:INT411
OMIM:300271
MESH:D038901
Basic Information
Inheritance
Age of Onset
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MALACARDS
X染色体
X显
未知
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1
10
2
INT411
Medical Symptom
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Description
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Gene & Mutation
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MGI
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