Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
FAHD UNIT, |
RCV000735855 | SCV000747136 | likely pathogenic | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 2018-05-07 | no assertion criteria provided | clinical testing | The variant is causing keratitis-ichthyosis-deafness (KID) syndrome in three siblings, born to first-cousin healthy parents. The affected presented with the classic phenotypic triad of KID syndrome including diffuse hyperkeratotic erythroderma, neurosensory hearing loss and vascularizing keratitis. |