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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
Neuropathy, Hereditary Motor and Sensory, with Deafness, Impaired Intellectual Development, and Absent Sensory Large Myelinated Fibers
Alias:
Charcot-Marie-Tooth Disease-Hearing Loss-Intellectual Disability Syndrome
Hereditary Motor and Sensory Neuropathy with Hearing Loss, Intellectual Disability and Absent Sensory Large Myelinated Fibers
Hereditary Motor and Sensory Neuropathy with Deafness, Intellectual Disability and Absent Sensory Large Myelinated Fibers
Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Cmt-Deafness-Intellectual Disability Syndrome
Deafness with Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease and Deafness
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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
遗传性运动和感觉神经病,伴有耳聋、智力障碍和感觉大髓鞘纤维缺失,也称为Charcot-Marie-Tooth病-听力损失-智力障碍综合征,与Charcot-Marie-Tooth病和耳聋以及遗传性感觉神经病有关。相关表型包括智力障碍、轻度和降低的神经传导速度。
Related ID:
MALACARDS:NRP072
OMIM:214370
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
--
--
3
NRP072
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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