| {"0": "Reduced visual acuity", "1": "Abnormality of the cerebrospinal fluid", "2": "Cognitive impairment", "3": "Cerebellar atrophy", "4": "Mental deterioration", "5": "Central scotoma", "6": "Weakness due to upper motor neuron dysfunction", "7": "Bulbar signs", "8": "Vascular skin abnormality", "9": "Abnormality of the biliary system", "10": "Abnormality of the spleen", "11": "Developmental regression", "12": "Scotoma", "13": "Young adult onset", "14": "Phenotypic variability", "15": "Microcytic anemia", "16": "Slurred speech", "17": "Abnormal cns myelination", "18": "Cherry red spot of the macula", "19": "Postural tremor", "20": "Central apnea", "21": "Abnormality of corneal stroma", "22": "Very long chain fatty acid accumulation", "23": "Anteriorly placed anus", "24": "Hypocholesterolemia", "25": "Periventricular white matter hyperintensities", "26": "Increased serum lactate", "27": "Epiphyseal stippling", "28": "Abnormality of bone mineral density", "29": "Tremor", "30": "Abnormality of central nervous system electrophysiology", "31": "Abnormal biliary tract morphology", "32": "Sclerocornea", "33": "Horizontal nystagmus", "34": "Dysarthria", "35": "Abnormal epiphyseal ossification", "36": "Hepatomegaly", "37": "Optic atrophy", "38": "Abnormal pyramidal sign", "39": "Motor seizure", "40": "Biliary tract abnormality", "41": "Functional motor deficit", "42": "Abnormal cellular phenotype", "43": "Mucosal telangiectasiae", "44": "Rhizomelia", "45": "Abnormal retinal artery morphology", "46": "Muscle stiffness", "47": "Myoclonus", "48": "Ragged red muscle fibers", "49": "Hypertrophic cardiomyopathy"} |