deafness-hypogonadism syndrome
MONDO:0010575Mondo
Findings
No curated finding names deafness-hypogonadism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.
Definition from the Mondo Disease Ontology (MONDO:0010575), read 2026-09-29. CC BY 4.0.
Features
18 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 spermatogenesisHPOHP:0008669
- Very frequent (80% to 99% of cases)
- Abnormality of the internal auditory canalHPOHP:0011384
- Very frequent (80% to 99% of cases)
- Abnormality of the middle ear ossiclesHPOHP:0004452
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Enlarged cochlear aqueductHPOHP:0011388
- Very frequent (80% to 99% of cases)
- Hypergonadotropic hypogonadismHPOHP:0000815
- Very frequent (80% to 99% of cases)
- Progressive sensorineural hearing impairmentHPOHP:0000408
- Very frequent (80% to 99% of cases)
- Severe conductive hearing impairmentHPOHP:0012717
- Very frequent (80% to 99% of cases)
- Stapes ankylosisHPOHP:0000381
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
Show the remaining 6
- Cognitive impairmentHPOHP:0100543
- Occasional (5% to 29% of cases)
- Decreased circulating vitamin B1 concentrationHPOHP:0100503
- Occasional (5% to 29% of cases)
- Early-onset non-progressive night blindnessHPOHP:0007642
- Occasional (5% to 29% of cases)
- EpicanthusHPOHP:0000286
- Occasional (5% to 29% of cases)
- Heterochromia iridisHPOHP:0001100
- Occasional (5% to 29% of cases)
- HypertelorismHPOHP:0000316
- Occasional (5% to 29% of cases)
Where it sits
- A kind of