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palmoplantar keratoderma with deafness (PPKDFN)
Genetics:
- autosomal dominant
- associated with defects in connexin-26 (GJB2)
Clinical manifestations:
- palmoplantar hyperkeratosis
- progressive, bilateral, high-frequency, sensorineural deafness
General
genetic syndrome (multisystem disorder)
palmoplantar keratoderma
Database Correlations
OMIM 148350
References
OMIM :accession 148350