hearing loss with skin disease
MONDO:0100113Mondo
Findings
No curated finding names hearing loss with skin disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.
Definition from the Mondo Disease Ontology (MONDO:0100113), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of