primary coenzyme Q10 deficiency 4

Term ID

DOID:0070241

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. https://www.ncbi.nlm.nih.gov/pubmed/18319072

References

• GARD:10294
• OMIM:612016
• ORDO:139485

Ontology

Human Disease   ( DOID:0070241 )