Peptidyl-tRNA hydrolase 2 deficiency

Synonym(s)
- Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PTRH2 / Peptidyl-tRNA Hydrolase 2
  17q23.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Peptidyl-tRNA hydrolase 2
Disease group(s)
- 11.4 Miscellaneous disorders associated with mitochondrial dysfunction