Tonne-Kalscheuer Syndrome (TOKAS)

Alias:
Tokas
Mrx61
Intellectual Developmental Disorder with or Without Hand and Foot Anomalies, Genital Anomalies, or Congenital Diaphragmatic Hernia
Intellectual Disability, X-Linked 61
Mental Retardation, X-Linked 61
X-Linked Mental Retardation 61
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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
吨-卡尔斯切乌尔综合症,也被称为tokas,与弗林斯综合症和先天性膈疝有关。与吨-卡尔斯切乌尔综合症有关的重要基因是RLIM(环指蛋白,LIM域相互作用)。附属组织包括肺和脑,相关表型为智力障碍和语言发育延迟。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
X染色体
X隐
未知
--
10
44
3

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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

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PMID
Journal
Year
IF
No Data Found!
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