Perrault syndrome 2
MONDO:0013972Mondo
Findings
No curated finding names Perrault syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013972), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AmenorrheaHPOHP:0000141
- 3 of 3 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 5 of 5 reported patients
- Streak ovaryHPOHP:0010464
- 3 of 3 reported patients · Female
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HARS2HGNC:4817
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: Perrault syndrome 2
- Also called
- HARS2 Perrault syndromePerrault syndrome caused by mutation in HARS2Perrault syndrome type 2