[REFSUM'S SYNDROME (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS): CONGENITAL DISORDER OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL-HEXADECANOIC ACID].
D001259:Ataxia; D002648:Child; D003638:Deafness; D005227:Fatty Acids; D006801:Humans; D007057:Ichthyosis; D050356:Lipid Metabolism; D008064:Lipidoses; D008659:Metabolic Diseases; D009443:Neuritis; D019308:Palmitic Acid; D012035:Refsum Disease; D012174:Retinitis Pigmentosa; D014786:Vision Disorders
D005227:Fatty Acids; D019308:Palmitic Acid
ATAXIA; CHILD; DEAFNESS; FATTY ACIDS; HEMERALOPIA; ICHTHYOSIS; LIPID METABOLISM; LIPOIDOSIS; METABOLIC DISEASES; POLYNEURITIS; RETINITIS PIGMENTOSA