X-linked mixed hearing loss with perilymphatic gusher
Findings
No curated finding names X-linked mixed hearing loss with perilymphatic gusher yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.
Definition from the Mondo Disease Ontology (MONDO:0010576), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Dilatated internal auditory canalHPOHP:0004458
- 4 of 4 reported patients
- Congenital sensorineural hearing impairmentHPOHP:0008527
- 3 of 8 reported patients
- Mixed hearing impairmentHPOHP:0000410
- 3 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.
- POU3F4HGNC:9217
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
1 name
Resolves to: X-linked mixed hearing loss with perilymphatic gusher
- Also called
- DFNX2