Disease

mitochondrial complex IV deficiency nuclear type 2

Name: mitochondrial complex IV deficiency nuclear type 2
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. MC4DN2 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1

Definition

A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13.

Synonyms

fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1
MC4DN2

Cross References

MIM:604377
UMLS_CUI:C5399977

Parent Terms

autosomal recessive disease
COX deficiency, infantile mitochondrial myopathy

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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