| {"0": "Cognitive impairment", "1": "Abnormal biliary tract morphology", "2": "Delusions", "3": "Abnormal lower limb bone morphology", "4": "Abnormal cellular phenotype", "5": "Abnormal bone structure", "6": "Biliary tract abnormality", "7": "Optic atrophy", "8": "Clumsiness", "9": "Abnormal circulating cholesterol concentration", "10": "Pain", "11": "Sensorimotor neuropathy", "12": "Disproportionate short stature", "13": "Abnormal circulating lipid concentration", "14": "Mental deterioration", "15": "Hepatic failure", "16": "Abnormal chorioretinal morphology", "17": "Exercise intolerance", "18": "Dementia", "19": "Bulbar signs", "20": "Arthritis", "21": "Mania", "22": "Duplication involving bones of the feet", "23": "Abnormal choroid morphology", "24": "Ventricular hypertrophy", "25": "Frequent falls", "26": "Ragged red muscle fibers", "27": "Schizophrenia", "28": "Abnormal liver morphology", "29": "Corneal opacity", "30": "Incoordination", "31": "Postaxial foot polydactyly", "32": "Abnormality of the 5th toe", "33": "Postural tremor", "34": "Abnormality of corneal stroma", "35": "Peripheral demyelination", "36": "Abnormal retinal artery morphology", "37": "Skin nodule", "38": "Hypocholesterolemia", "39": "Abnormal csf protein level", "40": "Hyperlipidemia", "41": "Hepatomegaly", "42": "Hand polydactyly", "43": "Subcutaneous nodule", "44": "Abnormality of head blood vessel", "45": "Progressive neurologic deterioration", "46": "Left ventricular hypertrophy", "47": "Generalized muscle weakness", "48": "Hyperintensity of cerebral white matter on mri", "49": "Heterogeneous"} |