has material basis in germline mutation in MED12 hereditary disease cholestasis-pigmentary retinopathy-cleft palate syndrome https://www.malacards.org/card/hardikar_syndrome MESH:C535632 OMIM:301068 MONDO:0012997 Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated. UMLS:C0795969 Hardikar syndrome GARD:0009280 SCTID:720636001 OMIM:612726 Orphanet:1415 MEDGEN:208652