OBO ID: DOID:0112138
Term Name: primary coenzyme Q10 deficiency 9 Search Ontology:
Synonyms:
  • COQ10D9
Definition: A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in COQ5 on chromosome 12q24.31. https://pubmed.ncbi.nlm.nih.gov/29044765/
References:
Ontology: Human Disease   (DOID:0112138)
OTHER primary coenzyme Q10 deficiency 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COQ5 ?Coenzyme Q10 deficiency, primary, 9 619028
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None