Usher syndrome type 3A
MONDO:0010170Mondo
Findings
No curated finding names Usher syndrome type 3A 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 CLRN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010170), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
4 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.
- Reduced visual acuityHPOHP:0007663
- 2 of 2 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 2 of 2 reported patients · Juvenile onset
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients
- Abnormal vestibular functionHPOHP:0001751
- 1 of 2 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.
- CLRN1HGNC:12605
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Usher syndrome type 3A
- Also called
- CLRN1 Usher syndromeUSH3AUsher syndrome caused by mutation in CLRN1