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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
Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies (GDACCF)
Alias:
Gdaccf
Developmental Disabilities
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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
全球发育延迟、无或发育不良的胼胝体和畸形面容,也称为gdaccf,与小头畸形和脊髓小脑性共济失调44有关。与全球发育延迟、无或发育不良的胼胝体和畸形面容有关的重要基因是ZNF148(锌指蛋白148),其相关通路/超级通路包括嗅上皮神经发生调节。在该疾病的背景下,已提到药物胍法辛和甲基苯丙胺。附属组织包括大脑和肺,相关表型为全球发育延迟和内眦。
Related ID:
MALACARDS:GLB021
OMIM:617260
MESH:D002658
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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9
106
1
GLB021
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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