hearing loss, autosomal recessive 119
MONDO:0030480Mondo
Findings
No curated finding names hearing loss, autosomal recessive 119 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 · 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.
- Sensorineural hearing impairmentHPOHP:0000407
- 22 of 22 reported patients
- Global developmental delayHPOHP:0001263
- 0 of 22 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 22 reported patients
- SeizureHPOHP:0001250
- 0 of 22 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.
- AFG2BHGNC:28762
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: hearing loss, autosomal recessive 119
- Also called
- DFNB119