| {"0": "Action tremor", "1": "Abnormal peripheral nervous system physiology", "2": "Rigidity", "3": "Abnormal muscle fiber morphology", "4": "Distal amyotrophy", "5": "Abnormal circulating lipid concentration", "6": "Duplication of hand bones", "7": "Peripheral axonal neuropathy", "8": "Corneal opacity", "9": "Prenatal movement abnormality", "10": "Bulbar signs", "11": "Contractures of the joints of the upper limbs", "12": "Dyskinesia", "13": "Distal muscle weakness", "14": "Slowly progressive", "15": "Peripheral axonal degeneration", "16": "Abnormal auditory evoked potentials", "17": "Variable expressivity", "18": "Muscle spasm", "19": "Sensorimotor neuropathy", "20": "Abnormality of the autonomic nervous system", "21": "Abnormal heart sound", "22": "Orthostatic hypotension due to autonomic dysfunction", "23": "Abnormal scapula morphology", "24": "Abnormality of epiphysis morphology", "25": "Episodic vomiting", "26": "Abnormal speech prosody", "27": "Unusual infection by anatomical site", "28": "Difficulty walking", "29": "Central scotoma", "30": "Dementia", "31": "Abnormal csf protein level", "32": "Generalized onset motor seizure", "33": "Disinhibition", "34": "Joint contracture of the hand", "35": "Adult onset", "36": "Contractures of the joints of the lower limbs", "37": "Abnormal corneal epithelium morphology", "38": "Schizophrenia", "39": "Abnormal biliary tract morphology", "40": "Biliary tract abnormality", "41": "Postural tremor", "42": "Abnormality of peripheral nerves", "43": "Cns demyelination", "44": "Profound global developmental delay", "45": "Recurrent sinusitis", "46": "Stillbirth", "47": "Abnormal epiphyseal ossification", "48": "Erythema", "49": "Ventricular arrhythmia"} |