| {"0": "Cognitive impairment", "1": "Mental deterioration", "2": "Vascular skin abnormality", "3": "Abnormality of the spleen", "4": "Dyspnea", "5": "Tremor", "6": "Pain", "7": "Splenomegaly", "8": "Abnormality of the lymphatic system", "9": "Abnormal cellular phenotype", "10": "Hepatomegaly", "11": "Cherry red spot of the macula", "12": "Abnormality of coordination", "13": "Myoclonus", "14": "Abnormal lower limb bone morphology", "15": "Abnormal vertebral morphology", "16": "Abnormal liver morphology", "17": "Abnormality of the biliary system", "18": "Constitutional symptom", "19": "Thickened skin", "20": "Abnormal joint morphology", "21": "Somatic sensory dysfunction", "22": "Muscle weakness", "23": "Bulbar signs", "24": "Generalized onset seizure", "25": "Abnormal retinal morphology", "26": "Spasticity", "27": "Abnormal abdomen morphology", "28": "Abnormality of the upper respiratory tract", "29": "Motor seizure", "30": "Weakness due to upper motor neuron dysfunction", "31": "Dysphagia", "32": "Abnormal bone structure", "33": "Phenotypic variability", "34": "Abnormal involuntary eye movements", "35": "Generalized abnormality of skin", "36": "Hypertrophic cardiomyopathy", "37": "Involuntary movements", "38": "Abnormal sternum morphology", "39": "Abnormal circulating lipid concentration", "40": "Horizontal nystagmus", "41": "Reduced visual acuity", "42": "Abnormal emotion affect behavior", "43": "Abnormality of upper limb joint", "44": "Clumsiness", "45": "Postural tremor", "46": "Sleep disturbance", "47": "Underdeveloped supraorbital ridges", "48": "Abnormal shape of the frontal region", "49": "Abnormality of the mitochondrion"} |