" /> Keratitis-ichthyosis-deafness syndrome, autosomal dominant - CISMeF





Preferred Label : Keratitis-ichthyosis-deafness syndrome, autosomal dominant;

Symbol : KIDAD;

CISMeF acronym : KIDAD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Kid syndrome, autosomal dominant; KID;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gap junction protein, beta 2 gene (GJB2, 121011.0020);

Neoplasia : Squamous cell carcinoma (skin and tongue);

Prefixed ID : #148210;

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02/05/2025


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