OnlineIMD
Coenzyme Q8B deficiency
(ADCK4 deficiency)
Synonym(s)
Nephrotic syndrome type 9
Type
Disease
External link(s)
IEMbase
Gene
COQ8B
/ Coenzyme Q8B
19q13.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Ubiquinone biosynthesis protein COQ8B, mitochondrial
Disease group(s)
8.1 Disorders of coenzyme Q10 biosynthesis