# Perrault syndrome

> autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure

**Wikidata**: [Q18553517](https://www.wikidata.org/wiki/Q18553517)  
**Source**: https://4ort.xyz/entity/perrault-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome
5. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease
6. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome
7. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)