Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive (KDIDAR)

Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive, also known as kdidar, is related to arthrogryposis, renal dysfunction, and cholestasis 1 and sensorineural hearing loss. An important gene associated with Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive is VPS33B (VPS33B Late Endosome And Lysosome Associated). Affiliated tissues include lung and bone, and related phenotypes are sensorineural hearing impairment and ichthyosis