Dyskinesia, Limb and Orofacial, Infantile-Onset (IOLOD)

Alias:
Infantile-Onset Generalized Dyskinesia with Orofacial Involvement
Iolod
Infantile-Onset Orofacial-Trunk-Limbs Dyskinesia
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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
肌张力障碍,肢体和口腔面部,婴儿型,也被称为婴儿期全身性肌张力障碍伴有口腔面部受累。与肌张力障碍,肢体和口腔面部,婴儿型相关的基因是PDE10A(磷酸二酯酶10A)。相关组织包括大脑,相关表型为口腔面部肌张力障碍和言语障碍。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
<1/1000000
1
9
2

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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