autosomal dominant keratitis-ichthyosis-deafness syndrome (Q42863516)
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autosomal dominant disease 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
- autosomal dominant KID syndrome
- autosomal dominant keratitis-ichthyosis-hearing loss syndrome
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal dominant keratitis-ichthyosis-deafness syndrome |
autosomal dominant disease 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 |
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