FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mitochondrial complex IV deficiency nuclear type 8 ID (Ontology) DOID:0070495 (Human Disease)
Definition A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3.
Also Known As "MC4DN8"
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 Genes
 mitochondrial complex IV deficiency nuclear type 8       2
 for disease ribbon | mitochondrial complex IV deficiency nuclear type 8       2
 model of | mitochondrial complex IV deficiency nuclear type 8       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______________________________
cytochrome-c oxidase deficiency disease                      |
 |__COX deficiency, benign infantile mitochondrial myopathy__|
                                                             mitochondrial complex IV deficiency nuclear type 8  2 rec.
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Is a autosomal recessive disease
COX deficiency, benign infantile mitochondrial myopathy
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Synonyms
  • "MC4DN8" EXACT OMO:0003012
Secondary IDs
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MIM:619052
UMLS_CUI:C5436689