Perrault syndrome 4
MONDO:0014126Mondo
Findings
No curated finding names Perrault syndrome 4 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 LARS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014126), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
18 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.
- Progressive sensorineural hearing impairmentHPOHP:0000408
- 17 of 17 reported patients · Childhood onset
- Increased circulating gonadotropin levelHPOHP:0000837
- 10 of 11 reported patients
- Hypoplasia of the uterusHPOHP:0000013
- 5 of 11 reported patients
- Decreased serum estradiolHPOHP:0008214
- 3 of 11 reported patients
- OligomenorrheaHPOHP:0000876
- 2 of 10 reported patients
- Secondary amenorrheaHPOHP:0000869
- 2 of 10 reported patients
- Hypoplasia of the ovary
Show the remaining 6
- Cubitus valgusHPOHP:0002967
- 1 of 17 reported patients
- Gait ataxiaHPOHP:0002066
- 1 of 17 reported patients
- ObesityHPOHP:0001513
- 1 of 17 reported patients
- OsteoporosisHPOHP:0000939
- 1 of 17 reported patients
- StrabismusHPOHP:0000486
- 1 of 17 reported patients
- Tarlov cystHPOHP:0025643
- 1 of 17 reported patients
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.
- LARS2HGNC:17095
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Perrault syndrome 4
- Also called
- LARS2 Perrault syndromePerrault syndrome caused by mutation in LARS2Perrault syndrome type 4