Usher syndrome type 2
Findings
No curated finding names Usher syndrome type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.
Definition from the Mondo Disease Ontology (MONDO:0016484), read 2026-09-29. CC BY 4.0.
Features
21 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 electroretinogramHPOHP:0000512
- Very frequent (80% to 99% of cases)
- Abnormality of the inner earHPOHP:0000359
- Very frequent (80% to 99% of cases)
- Iris hypopigmentationHPOHP:0007730
- 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)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Constriction of peripheral visual fieldHPOHP:0001133
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- NyctalopiaHPOHP:0000662
- Frequent (30% to 79% of cases)
Show the remaining 9
- Peripheral visual field lossHPOHP:0007994
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- Frequent (30% to 79% of cases)
- Sleep disturbanceHPOHP:0002360
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
- Color vision defectHPOHP:0000551
- 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.
- ADGRV1HGNC:17416
- Definitive · ClinGen · Autosomal recessive · 2017
- Supportive · Orphanet · Autosomal recessive · 2021
- USH2AHGNC:12601
- Definitive · ClinGen · Unknown · 2017
- Supportive · Orphanet · Autosomal recessive · 2021
- MYO7AHGNC:7606
- Supportive · Orphanet · Autosomal recessive · 2021
- WHRNHGNC:16361
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (3)
Other names
1 name
Resolves to: Usher syndrome type 2
- Also called
- USH2