A syndrome of dwarfism, mental retardation, lens opacities, nystagmus, strabismus, cryptorchidism and absent patellae. Report of 2 cases in siblings.
D001848:Bone Diseases, Developmental / Q000235:genetics*; D002386:Cataract / Q000235:genetics; D002648:Child; D003456:Cryptorchidism / Q000235:genetics*; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000235:genetics*; D005128:Eye Diseases / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009261:Nail-Patella Syndrome / Q000175:diagnosis; D009759:Nystagmus, Pathologic / Q000235:genetics; D010329:Patella / Q000002:abnormalities; D013285:Strabismus / Q000235:genetics