Mitochondrial Complex Iv Deficiency, Nuclear Type 13 (MC4DN13)

Alias:
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4
Mc4dn13
Cemcox4
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency, Type 4
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 4
Mitochondrial Complex Iv Deficiency Nuclear Type 13
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Complex Iv Deficiency, Nuclear Type 13, is also known as cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 13 is COA6 (Cytochrome C Oxidase Assembly Factor 6). Related phenotypes are hypothermia and hypotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
2
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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Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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