| {"0": "Cognitive impairment", "1": "Mental deterioration", "2": "Abnormality of the cerebrospinal fluid", "3": "Abnormal muscle fiber morphology", "4": "Abnormal sternum morphology", "5": "Abnormal vertebral morphology", "6": "Toe walking", "7": "Abnormal lower limb bone morphology", "8": "Visual loss", "9": "Pain", "10": "Abnormality of salivation", "11": "Abnormality of fontanelles", "12": "Abnormal biliary tract morphology", "13": "Dysphagia", "14": "Dementia", "15": "Optic disc pallor", "16": "Hypopigmented skin patches", "17": "Depression", "18": "Motor neuron atrophy", "19": "Abnormality of femur morphology", "20": "Abnormality of skin pigmentation", "21": "Abnormal form of the vertebral bodies", "22": "Abnormal nervous system electrophysiology", "23": "Abnormality of the larynx", "24": "Amyotrophic lateral sclerosis", "25": "Myoclonus", "26": "Subcutaneous nodule", "27": "Polyneuropathy", "28": "Vascular skin abnormality", "29": "Hallucinations", "30": "Tremor by anatomical site", "31": "Abnormal heart valve morphology", "32": "Action tremor", "33": "Abnormal femoral neck head morphology", "34": "Biliary tract abnormality", "35": "Clumsiness", "36": "Postaxial polydactyly", "37": "Abnormal bone structure", "38": "Limitation of joint mobility", "39": "Abnormality of the curvature of the vertebral column", "40": "Disproportionate short limb short stature", "41": "Delayed cranial suture closure", "42": "Intellectual disability progressive", "43": "Abnormality of the knee", "44": "Abnormality of long bone morphology", "45": "Abnormal csf metabolite level", "46": "Abnormal diaphysis morphology", "47": "Abnormal neuron morphology", "48": "Abnormality of skull ossification", "49": "Abnormality of the tongue"} |