Kohlschutter-Tonz Syndrome (KTZS)

Alias:
Amelocerebrohypohidrotic Syndrome
Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome
Ktzs
Kohlschütter-Tönz Syndrome
Kohlschutter Tonz Syndrome
Epilepsy and Yellow Teeth
Epilepsy, Dementia, and Amelogenesis Imperfecta
Epilepsy Dementia Amelogenesis Imperfecta
Kohlschuetter-Toenz Syndrome
Kohlschutter's Syndrome
Kohlschutter Syndrome
Presenile Dementia
Dementia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Kohlschutter-Tonz Syndrome, also known as amelocerebrohypohidrotic syndrome, is related to developmental and epileptic encephalopathy 25 and amelogenesis imperfecta, and has symptoms including ataxia, muscle spasticity and seizures. An important gene associated with Kohlschutter-Tonz Syndrome is ROGDI (Rogdi Atypical Leucine Zipper). The drugs Levodopa and Ketamine have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are seizure and spasticity
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
14
69
16

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
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IF
No Data Found!
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