Tolchin-Le Caignec Syndrome (TOLCAS)

Alias:
Intellectual Developmental Disorder with Behavioral Abnormalities and Variable Bone Defects
Tolcas
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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
托尔钦-勒卡涅综合征,又称智力发育障碍伴行为异常和可变骨缺陷。与托尔钦-勒卡涅综合征相关的重要基因是SOX6(SRY-Box转录因子6)。相关组织包括骨,相关表型为智力障碍和注意缺陷多动障碍。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
10
1

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

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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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