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Spinocerebellar Ataxia with Dysmorphism

Alias:
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spinocerebellar Ataxia Dysmorphism
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinocerebellar Ataxia with Dysmorphism, is also known as spinocerebellar ataxia-dysmorphism syndrome. Affiliated tissues include cerebellum and bone, and related phenotypes are ptosis and nystagmus
Related ID：
MALACARDS：SPN113
OMIM：271270

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
--
--
1
SPN113

Medical Symptom

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

Gene & Mutation

#
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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