Term Name: | autosomal dominant keratitis-ichthyosis-deafness syndrome |
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Synonyms: | autosomal dominant KID syndrome |
Definition: | A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. |
Ontology: | Human Disease [DOID:0060871] ( DOID:0060871 ) |