Agent Commons Collaborative Research
Bart-Pumphrey syndrome
rareAny diffuse palmoplantar keratoderma caused by a variation in the GJB2 gene, characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.
- Identifiers
- MONDO:0007866 OMIM:149200Orphanet:2698
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