OnlineIMD
FBXL4 deficiency
Synonym(s)
Mitochondrial DNA depletion syndrome type 13
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
FBXL4
/ F-Box And Leucine Rich Repeat Protein 4
6p22.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
F-box and leucine-rich repeat protein 4
Disease group(s)
11.3 Disorders of mitochondrial protein quality control