Usher syndrome type 1
Findings
No curated finding names Usher syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.
Definition from the Mondo Disease Ontology (MONDO:0010168), read 2026-09-29. CC BY 4.0.
Features
16 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)
- 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)
- Visual lossHPOHP:0000572
- Very frequent (80% to 99% of cases)
- Abnormal vestibular functionHPOHP:0001751
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Gait imbalanceHPOHP:0002141
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
Show the remaining 4
- Peripheral visual field lossHPOHP:0007994
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
- DepressionHPOHP:0000716
- Occasional (5% to 29% of cases)
Genes
7 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.
- MYO7AHGNC:7606
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- USH1CHGNC:12597
- Definitive · ClinGen · Unknown · 2017
- Supportive · Orphanet · Autosomal recessive · 2021
- PCDH15HGNC:14674
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- CDH23HGNC:13733
- · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Usher syndrome type 1
- Also called
- retinitis pigmentosa and congenital deafnessUSH1Usher syndrome, type 1