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ENKeratoderma, Palmoplantar, with Deafness (PPKDFN)
Alias:
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar Keratoderma with Deafness
Palmoplantar Hyperkeratosis-Hearing Loss Syndrome
Palmoplantar Keratoderma-Hearing Loss Syndrome
Palmoplantar Hyperkeratosis-Deafness Syndrome
Ppk-Deafness Syndrome
Keratoderma Palmoplantar Deafness
Keratoderma Palmoplantar, Deafness
Ppk with Deafness
Ppkdfn
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Keratoderma, Palmoplantar, with Deafness, also known as palmoplantar keratoderma-deafness syndrome, is related to deafness, nonsyndromic sensorineural, mitochondrial and kid syndrome. An important gene associated with Keratoderma, Palmoplantar, with Deafness is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-protein signaling G-Protein alpha-i signaling cascades. Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and hyperkeratosis
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MALACARDS
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