nonsyndromic genetic hearing loss
MONDO:0019497Mondo
Findings
No curated finding names nonsyndromic genetic hearing loss yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disease characterized by hearing loss that is not part of a larger syndrome.
Definition from the Mondo Disease Ontology (MONDO:0019497), read 2026-09-29. CC BY 4.0.
Features
13 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.
- Abnormal speech discriminationHPOHP:0001963
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Postlingual sensorineural hearing impairmentHPOHP:0008596
- Frequent (30% to 79% of cases)
- Prelingual sensorineural hearing impairmentHPOHP:0000399
- Frequent (30% to 79% of cases)
- Profound sensorineural hearing impairmentHPOHP:0011476
- Frequent (30% to 79% of cases)
- Progressive sensorineural hearing impairmentHPOHP:0000408
- Frequent (30% to 79% of cases)
- Abnormal vestibulo-ocular reflexHPOHP:0007670
- Occasional (5% to 29% of cases)
- Childhood onset sensorineural hearing impairmentHPOHP:0011474
- Occasional (5% to 29% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Occasional (5% to 29% of cases)
- High-frequency hearing impairmentHPOHP:0005101
- Occasional (5% to 29% of cases)
- Moderate hearing impairmentHPOHP:0012713
- Occasional (5% to 29% of cases)
- Severe hearing impairmentHPOHP:0012714
- Occasional (5% to 29% of cases)
Show the remaining 1
- Low-frequency sensorineural hearing impairmentHPOHP:0008573
- Very rare (1% to 4% of cases)
Genes
100 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.
- ACTG1HGNC:144
- Definitive · ClinGen · Autosomal dominant · 2019
- CABP2HGNC:1385
- Definitive · ClinGen · Autosomal recessive · 2020
- CDC14AHGNC:1718
- Definitive · ClinGen · Autosomal recessive · 2025
- CDH23HGNC:13733
- Definitive · ClinGen · Autosomal recessive · 2018
- CIB2HGNC:24579
- Definitive · ClinGen · Autosomal recessive · 2018