Mitochondrial alanyl-tRNA synthetase deficiency

Synonym(s)
- Combined oxidative phosphorylation deficiency type 8
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- AARS2 / alanyl-tRNA synthetase 2, mitochondrial
  6p21.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Alanyl-tRNA synthetase 2, mitochondrial
Disease group(s)
- 10.2 Disorders of mitochondrial aminoacyl-tRNA synthetases
Child entries
- Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
- Progressive leukoencephalopathy with ovarian failure