Familial syndrome of progressive cone dystrophy, degenerative liver disease and endocrine dysfunction. II. Clinical and metabolic studies.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D003117:Color Vision Defects / Q000235:genetics* / Q000378:metabolism; D003241:Consanguinity; D003402:Creatine Kinase / Q000378:metabolism; D003638:Deafness / Q000235:genetics; D004569:Electroencephalography; D004700:Endocrine System Diseases / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D006973:Hypertension / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008099:Liver / Q000473:pathology; D008107:Liver Diseases / Q000235:genetics* / Q000378:metabolism; D012658:Sella Turcica / Q000002:abnormalities; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D013960:Thyroid Function Tests
D003402:Creatine Kinase