| Disease ID | Source | Name | Description |
| 242150 | OMIM | Keratitis-ichthyosis-deafness syndrome, autosomal recessive (KIDAR) | An autosomal recessive form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. KIDAR patients manifest ichthyosis, failure to thrive and developmental delay in childhood, thrombocytopenia, photophobia, and progressive hearing loss. Low plasma copper and ceruloplasmin levels have been reported in some patients. The disease is caused by variants affecting the gene represented in this entry. |