Dyskinesia with Orofacial Involvement, Autosomal Dominant (DSKOD)

Alias:
Dyskinesia, Familial, with Facial Myokymia
Fdfm
Familial Dyskinesia and Facial Myokymia
Dskod
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dyskinesia with Orofacial Involvement, Autosomal Dominant, also known as dyskinesia, familial, with facial myokymia, is related to adcy5-related dyskinesia and seizures, benign familial neonatal, 1, and has symptoms including dystonia and myokymia. An important gene associated with Dyskinesia with Orofacial Involvement, Autosomal Dominant is ADCY5 (Adenylate Cyclase 5). Affiliated tissues include heart, and related phenotypes are orofacial dyskinesia and facial myokymia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
1
11
18

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

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
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