Mitochondrial ribosomal small subunit 34 deficiency

Synonym(s)
- Combined oxidative phosphorylation deficiency type 32
Type

Disease
External link(s)
- IEMbase
Gene
- MRPS34 / Mitochondrial Ribosomal Protein S34
  16p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial ribosomal protein S34
Disease group(s)
- 10.3.1 Mitoribosome subunit deficiencies