title: An unusual eye-ear syndrome with renal abnormality.
mesh_terms: D002648:Child; D003103:Coloboma / Q000235:genetics; D003638:Deafness / Q000235:genetics; D003937:Diagnosis, Differential; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D008297:Male; D000608:Renal Aminoacidurias / Q000235:genetics; D013577:Syndrome; D014849:Waardenburg Syndrome / Q000175:diagnosis