A syndrome characterized by corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation.
D001132:Arm / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003286:Contracture / Q000235:genetics*; D003318:Corneal Opacity / Q000235:genetics*; D004551:Elbow Joint; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009667:Nose Deformities, Acquired / Q000235:genetics; D009759:Nystagmus, Pathologic / Q000235:genetics*