Mitochondrial ribosomal small subunit 22 deficiency

Synonym(s)
- Combined oxidative phosphorylation deficiency type 5
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MRPS22 / Mitochondrial Ribosomal Protein S22
  3q23
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial ribosomal protein S22
Disease group(s)
- 10.3.1 Mitoribosome subunit deficiencies