Perrault syndrome 1
MONDO:0009300Mondo
Findings
No curated finding names Perrault syndrome 1 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 HSD17B4 gene.
Definition from the Mondo Disease Ontology (MONDO:0009300), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Gonadal dysgenesisHPOHP:0000133
- 2 of 2 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 2 of 2 reported patients
- Sensorimotor neuropathyHPOHP:0007141
- 2 of 2 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 1 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
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.
- HSD17B4HGNC:5213
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Perrault syndrome 1
- Also called
- HSD17B4 Perrault syndromePerrault syndrome caused by mutation in HSD17B4Perrault syndrome type 1