Mitochondrial ribosomal large subunit 49 deficiency

Type

Disease
Gene
- MRPL49 / Mitochondrial Ribosomal Protein L49
  11q13.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial ribosomal protein L49
Disease group(s)
- 10.3.1 Mitoribosome subunit deficiencies