OBO ID: DOID:0112138 |
Term Name: | primary coenzyme Q10 deficiency 9 | Search Ontology: | |
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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 the COQ5 gene on chromosome 12q24.31. https://pubmed.ncbi.nlm.nih.gov/29044765/ | ||
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Ontology: | Human Disease ( DOID:0112138 ) |
OTHER primary coenzyme Q10 deficiency 9 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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