Ataxia-Oculomotor Apraxia 4 (AOA4)

Alias:
Ataxia-Oculomotor Apraxia Type 4
Aoa4
Ataxia - Oculomotor Apraxia Type 4
Ataxia-Oculomotor Apraxia, Type 4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ataxia-Oculomotor Apraxia 4, also known as ataxia-oculomotor apraxia type 4, is related to hypercholesterolemia, familial, 1 and glioma susceptibility 1. An important gene associated with Ataxia-Oculomotor Apraxia 4 is PNKP (Polynucleotide Kinase 3'-Phosphatase). Affiliated tissues include eye, and related phenotypes are ataxia and cognitive impairment
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
1
6
5

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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