autosomal recessive nonsyndromic hearing loss 4
MONDO:0010933Mondo
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital 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.
- Enlarged vestibular aqueductHPO · MondoHP:0011387
- 3 of 3 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 10 of 10 reported patients · Congenital onset
- GoiterHPOHP:0000853
- 0 of 10 reported patients
- Incomplete partition of the cochlea type IIHPOHP:0000376
- 0 of 3 reported patients
Genes
2 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.
- SLC26A4HGNC:8818
- Definitive · Ambry Genetics · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- FOXI1HGNC:3815
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: autosomal recessive nonsyndromic hearing loss 4
- Also called
- enlarged vestibular aqueductenlarged vestibular aqueduct, digenic