Mitochondrial ribosomal large subunit 12 deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- MRPL12 / Mitochondrial Ribosomal Protein L12
  17q25.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial ribosomal protein L12
Disease group(s)
- 10.3.1 Mitoribosome subunit deficiencies