OnlineIMD
LRPPRC deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
LRPPRC
/ Leucine Rich Pentatricopeptide Repeat Containing
2p21
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Leucine-rich PPR motif-containing protein, mitochondrial
Disease group(s)
7.4.2 Disorders of nuclear encoded complex IV assembly factors