Usher syndrome type 3
Findings
No curated finding names Usher syndrome type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life.
Definition from the Mondo Disease Ontology (MONDO:0016485), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Abnormal cochlea morphologyHPOHP:0000375
- Very frequent (80% to 99% of cases)
- Abnormal electroretinogramHPOHP:0000512
- Very frequent (80% to 99% of cases)
- Iris hypopigmentationHPOHP:0007730
- Very frequent (80% to 99% of cases)
- NyctalopiaHPOHP:0000662
- Very frequent (80% to 99% of cases)
- Rod-cone dystrophyHPOHP:0000510
- Very frequent (80% to 99% of cases)
- ScotomaHPOHP:0000575
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Vestibular hyporeflexiaHPOHP:0001756
- Very frequent (80% to 99% of cases)
- Visual lossHPOHP:0000572
- Very frequent (80% to 99% of cases)
- Abnormal vestibular functionHPOHP:0001751
- Occasional (5% to 29% of cases)
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
- DepressionHPOHP:0000716
- Occasional (5% to 29% of cases)
Genes
4 genes
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.
- CLRN1HGNC:12605
- Definitive · ClinGen · Unknown · 2017
- Definitive · Natera · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
- ARSGHGNC:24102
- Supportive · Orphanet · Autosomal recessive · 2021
- CEP78HGNC:25740
- Supportive · Orphanet · Autosomal recessive · 2021
- HARS1HGNC:4816
- Supportive · Orphanet · Autosomal recessive · 2021
- Refuted Evidence · ClinGen · Autosomal recessive · 2018
Where it sits
- A kind of
- Narrower terms (2)
Other names
1 name
Resolves to: Usher syndrome type 3
- Also called
- USH3