Disease #01404 (keratoderma palmoplantar, deafness, OMIM:148350)

Official abbreviation -
Name keratoderma palmoplantar, deafness
OMIM ID 148350
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene GJB2
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Disease features -
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Individuals

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00043747 - PubMed: Nemoto-Hasebe 2009 - F - Japan - - 0 - - keratoderma palmoplantar, deafness see paper; palmoplantar keratoderma with pseudoainhum, knuckle pads, hearing loss, ... GJB6 GJB6 1 1 Julia Lopez
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