primary coenzyme Q10 deficiency 9

Term ID

DOID:0112138

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 the COQ5 gene on chromosome 12q24.31. https://pubmed.ncbi.nlm.nih.gov/29044765/

References

• OMIM:619028

Ontology

Human Disease   ( DOID:0112138 )