Term Name: | primary coenzyme Q10 deficiency 4 |
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Synonyms: | coenzyme Q10 deficiency, primary, 4, COQ10D4, SCAR9, spinocerebellar ataxia, autosomal recessive 9 |
Definition: | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. |
Ontology: | Human Disease [DOID:0070241] ( DOID:0070241 ) |