hearing loss, autosomal dominant 78
MONDO:0033665Mondo
Findings
No curated finding names hearing loss, autosomal dominant 78 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 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.
- Profound sensorineural hearing impairmentHPOHP:0011476
- 8 of 8 reported patients · Congenital onset
- Motor delayHPOHP:0001270
- 2 of 8 reported patients · Infantile onset
- Global developmental delayHPOHP:0001263
- 0 of 8 reported patients
- MacrocephalyHPOHP:0000256
- 0 of 8 reported patients
- SchizophreniaHPOHP:0100753
- 0 of 8 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.
- SLC12A2HGNC:10911
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022