Mitochondrial RNA import protein deficiency

Synonym(s)
- Combined oxidative phosphorylation deficiency type 13
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PNPT1 / Polyribonucleotide Nucleotidyltransferase 1
  2p16.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Polyribonucleotide nucleotidyltransferase 1, mitochondrial
Disease group(s)
- 10.1 Disorders of mitochondrial transcript processing and modification
Child entries
- Spinocerebellar ataxia type 25