Usher syndrome, type 4
MONDO:0029141Mondo
Findings
No curated finding names Usher syndrome, type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- 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.
- Constriction of peripheral visual fieldHPOHP:0001133
- 1 of 1 reported patient
- Hyperautofluorescent macular lesionHPOHP:0030631
- 1 of 1 reported patient
- NyctalopiaHPOHP:0000662
- 1 of 1 reported patient
- Progressive sensorineural hearing impairmentHPOHP:0000408
- 5 of 5 reported patients · Middle age onset
- Retinal atrophyHPOHP:0001105
- 5 of 5 reported patients
- Retinal degenerationHPOHP:0000546
- 1 of 1 reported patient
- Ring scotomaHPOHP:0030529
- 5 of 5 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
- Spicular pigmentation of the retinaHPOHP:0007737
- 6 of 6 reported patients
- Abnormal vestibular functionHPOHP:0001751
- 0 of 5 reported patients
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.
- ARSGHGNC:24102
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Limited · Ambry Genetics · Autosomal recessive · 2020
- Limited · G2P · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Usher syndrome, type 4
- Also called
- Usher syndrome, type IV