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