Knuckle pads, deafness AND leukonychia syndrome
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Sign InDescription
Bart-Pumphrey syndrome (BAPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability (summary by Richard et al., 2004).
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
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