Mitochondrial phenylalanyl-tRNA synthetase deficiency

Synonym(s)
- Combined oxidative phosphorylation deficiency type 14
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- FARS2 / Phenylalanyl-tRNA Synthetase 2, Mitochondrial
  6p25.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phenylalanyl-tRNA synthetase 2, mitochondrial
Disease group(s)
- 10.2 Disorders of mitochondrial aminoacyl-tRNA synthetases
Child entries
- Autosomal recessive spastic paraplegia type 77