FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term combined oxidative phosphorylation deficiency 18 ID (Ontology) DOID:0111484 (Human Disease)
Definition A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11.
Also Known As "COXPD18" ; "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"
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 Genes
 combined oxidative phosphorylation deficiency 18       2
 for disease ribbon | combined oxidative phosphorylation deficiency 18       2
 model of | combined oxidative phosphorylation deficiency 18       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____________________
mitochondrial metabolism disease                   |
 |__combined oxidative phosphorylation deficiency__|
                                                   combined oxidative phosphorylation deficiency 18  2 rec.
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Is a autosomal recessive disease
combined oxidative phosphorylation deficiency
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Synonyms
  • "COXPD18" EXACT OMO:0003012
    "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome" EXACT
Secondary IDs
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MIM:615578
ORDO:391348