OnlineIMD
Mitochondrial ribosomal small subunit 16 deficiency
Synonym(s)
Combined oxidative phosphorylation deficiency type 2
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
MRPS16
/ Mitochondrial Ribosomal Protein S16
10q22.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Mitochondrial Ribosomal Protein S16
Disease group(s)
10.3.1 Mitoribosome subunit deficiencies