" /> Keratoderma, palmoplantar, with deafness - CISMeF





Preferred Label : Keratoderma, palmoplantar, with deafness;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mitochondrial transfer RNA, mitochondrial, serine, 1 gene (MTTS1, 590080.0002); Caused by mutation in the gap junction protein, beta-2, 26kD gene (GJB2, 121011.0015);

Prefixed ID : #148350;

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03/05/2025


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