Perrault syndrome 3
MONDO:0013588Mondo
Findings
No curated finding names Perrault syndrome 3 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 CLPP gene.
Definition from the Mondo Disease Ontology (MONDO:0013588), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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.
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 8 of 8 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 10 of 10 reported patients · Congenital onset
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 7 of 8 reported patients
- Hypoplasia of the uterusHPOHP:0000013
- 3 of 9 reported patients
- Primary amenorrheaHPOHP:0000786
- 3 of 9 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 10 reported patients
- Seizure
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.
- CLPPHGNC:2084
- Definitive · ClinGen · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Perrault syndrome 3
- Also called
- CLPP Perrault syndromePerrault syndrome caused by mutation in CLPPPerrault syndrome type 3