OnlineIMD
Mitochondrial ribosomal small subunit 39 deficiency
Type
Disease
External link(s)
IEMbase
Gene
PTCD3
/ Mitochondrial Peptidyl-tRNA Hydrolase PTCD3
2p11.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Mitochondrial peptidyl-tRNA hydrolase PTCD3
Disease group(s)
10.3.1 Mitoribosome subunit deficiencies