Hardikar Syndrome (HDKR)

Hardikar Syndrome, also known as cholestasis-pigmentary retinopathy-cleft palate syndrome, is related to opitz-kaveggia syndrome and retinitis pigmentosa, and has symptoms including icterus An important gene associated with Hardikar Syndrome is MED12 (Mediator Complex Subunit 12). Affiliated tissues include eye and liver, and related phenotypes are jaundice and hydronephrosis