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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 109 (XLID109)
Alias:
Mental Retardation, X-Linked, Fraxe Type
Fraxe Syndrome
Mental Retardation, X-Linked, Associated with Fragile Site Fraxe
X-Linked Intellectual Developmental Disorder 109
Fraxe Mental Retardation Syndrome
Fragile Xe Syndrome
Xlid109
Mrx109
Mental Retardation, X-Linked 109
Fragile Site on Chromosome Xq28
Fraxe Intellectual Disability
Fraxe Intellectual Deficit
Fraxe
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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109型,又称X连锁精神发育迟滞,fraxe型,与fraxe智力障碍和脆性X相关震颤/共济失调有关,症状包括躁动不安。与智力发育障碍,X连锁109型有关的重要基因是AFF2(ALF转录延伸因子2)。相关组织包括小脑和大脑,相关表型为智力障碍和语言发育延迟。
Related ID:
MALACARDS:INT399
OMIM:309548
MESH:D038901
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
未知
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23
133
17
INT399
Medical Symptom
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