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Hypertonia

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypertonia is related to hyperekplexia 4 and combined oxidative phosphorylation deficiency 54. An important gene associated with Hypertonia is TSEN54 (TRNA Splicing Endonuclease Subunit 54). The drugs Trihexyphenidyl and Baclofen have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and brain.
Related ID：
MALACARDS：HYP264

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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7
71
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HYP264

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

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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