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Naxos disease
A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.
Cleft upper lip
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
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