Usher syndrome type 3B
MONDO:0013788Mondo
Findings
No curated finding names Usher syndrome type 3B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene.
Definition from the Mondo Disease Ontology (MONDO:0013788), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 3 of 3 reported patients
- Bull's eye maculopathyHPOHP:0011504
- 3 of 3 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 3 of 3 reported patients
- Hearing impairmentHPOHP:0000365
- 3 of 3 reported patients
- Horizontal nystagmusHPOHP:0000666
- 3 of 3 reported patients
- Hyperactive patellar reflexHPOHP:0007083
- 3 of 3 reported patients
- Optic disc pallorHPO
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.
- HARS1HGNC:4816
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Limited · G2P · Autosomal recessive · 2015
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Usher syndrome type 3B
- Also called
- HARS Usher syndromeUSH3BUsher syndrome caused by mutation in HARS