autosomal recessive nonsyndromic hearing loss 77
MONDO:0013119Mondo
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 77 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013119), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 7 of 7 reported patients · Childhood onset
- Abnormal vestibular functionHPOHP:0001751
- 0 of 7 reported patients
- TinnitusHPOHP:0000360
- 0 of 7 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.
- LOXHD1HGNC:26521
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of