Visualize Submit Comment

Metadata
ID	DOID:0112138
Name	primary coenzyme Q10 deficiency 9
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/
Xrefs	MIM:619028
Synonyms	COQ10D9 [EXACT]
Parent Relationships	is_a coenzyme Q10 deficiency disease is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance