Bart-Pumphrey syndrome
Any 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.
MONDO:0017666
diffuse palmoplantar keratoderma
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MONDO:1060236
GJB2-related disorder
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Bart-Pumphrey syndrome
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knuckle pads, leuconychia and sensorineural deafness
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knuckle pads, leukonychia, and sensorineural deafness
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knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
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knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome
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