Norrie's disease.
D000015:Abnormalities, Multiple; D001766:Blindness / Q000151:congenital*; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities; D005260:Female; D006311:Hearing Disorders; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male