Mitochondrial ribosomal large subunit 44 deficiency

Synonym(s)
- Combined oxidative phosphorylation deficiency type 16
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MRPL44 / Mitochondrial Ribosomal Protein L44
  2q36.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial ribosomal protein L44
Disease group(s)
- 10.3.1 Mitoribosome subunit deficiencies