autosomal dominant nonsyndromic hearing loss 44
Findings
No curated finding names autosomal dominant nonsyndromic hearing loss 44 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.
Definition from the Mondo Disease Ontology (MONDO:0011832), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile 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
- 18 of 18 reported patients · Juvenile onset
- Abnormal inner ear morphologyHPOHP:0011390
- 0 of 1 reported patient
- Abnormal vestibular functionHPOHP:0001751
- 0 of 18 reported patients
- TinnitusHPOHP:0000360
- 0 of 18 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.
- CCDC50HGNC:18111
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017