Spastic Ataxia 4, Autosomal Recessive (SPAX4)

Alias:
Spax4
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Autosomal Recessive Spastic Ataxia Type 4
Ataxia, Spastic, Type 4, Autosomal Dominant
Spastic Ataxia 4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Ataxia 4, Autosomal Recessive, also known as spax4, is related to spastic ataxia 4 and spastic ataxia, and has symptoms including paraparesis, spastic An important gene associated with Spastic Ataxia 4, Autosomal Recessive is MTPAP (Mitochondrial Poly(A) Polymerase). Affiliated tissues include tongue, and related phenotypes are hyperreflexia and dysarthria
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
4
2

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

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PMID
Journal
Year
IF
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