| {"0": "Dementia", "1": "Abnormal biliary tract morphology", "2": "Schizophrenia", "3": "Biliary tract abnormality", "4": "Increased bone mineral density", "5": "Variable expressivity", "6": "Abnormal social behavior", "7": "Impaired social interactions", "8": "Rigidity", "9": "Action tremor", "10": "Postural tremor", "11": "Poor eye contact", "12": "Hypocholesterolemia", "13": "Muscle abnormality related to mitochondrial dysfunction", "14": "Optic disc pallor", "15": "Erythema", "16": "Mental deterioration", "17": "Nephropathy", "18": "Ichthyosis", "19": "Neuronal loss in central nervous system", "20": "Emg neuropathic changes", "21": "Polyneuropathy", "22": "Microdontia", "23": "Mitochondrial myopathy", "24": "Abnormal activity of mitochondrial respiratory chain", "25": "Prenatal maternal abnormality", "26": "Knee flexion contracture", "27": "Postaxial polydactyly", "28": "Disproportionate short stature", "29": "Abnormal muscle fiber morphology", "30": "Frequent falls", "31": "Focal segmental glomerulosclerosis", "32": "Abnormal csf protein level", "33": "Scrotal hypoplasia", "34": "Ragged red muscle fibers", "35": "Brittle hair", "36": "Hallucinations", "37": "Areflexia of lower limbs", "38": "Abnormal peripheral nervous system physiology", "39": "Delusions", "40": "Flat face", "41": "Arthritis", "42": "Poor head control", "43": "Delayed puberty", "44": "Opisthotonus", "45": "Central scotoma", "46": "Retinal degeneration", "47": "Submucous cleft of soft and hard palate", "48": "Gait ataxia", "49": "Paraparesis"} |