OnlineIMD
Mitochondrial ribosomal large subunit 3 deficiency
Synonym(s)
Combined oxidative phosphorylation deficiency type 9
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
MRPL3
/ Mitochondrial Ribosomal Protein L3
3q22.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Mitochondrial Ribosomal Protein L3
Disease group(s)
10.3.1 Mitoribosome subunit deficiencies