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Bart-Pumphrey syndrome
Genetics:
- autosomal dominant
- associated with defects in GJB2
Clinical manifestations:
- sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, & leukonychia
- shows considerable phenotypic variability
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 149200
References
OMIM :accession 149200