| {"0": "Muscle stiffness", "1": "Disproportionate short stature", "2": "Cardiac conduction abnormality", "3": "Bulbar signs", "4": "Polyneuropathy", "5": "Abnormal biliary tract morphology", "6": "Abnormal chorioretinal morphology", "7": "Abnormal choroid morphology", "8": "Horizontal nystagmus", "9": "Generalized myoclonic seizure", "10": "Exercise intolerance", "11": "Disproportionate short limb short stature", "12": "Morphological abnormality of the pyramidal tract", "13": "Clonus", "14": "Respiratory distress", "15": "Biliary tract abnormality", "16": "Elevated pulmonary artery pressure", "17": "Nephropathy", "18": "Cerebellar cyst", "19": "Postural tremor", "20": "Abnormality of pulmonary circulation", "21": "Ventricular arrhythmia", "22": "Sensorimotor neuropathy", "23": "Young adult onset", "24": "Coloboma", "25": "Aplasia hypoplasia involving bones of the thorax", "26": "Progressive visual loss", "27": "Dilated fourth ventricle", "28": "Abnormal circulating pyruvate family amino acid concentration", "29": "Peripheral demyelination", "30": "Abnormality of corneal stroma", "31": "Dilated cardiomyopathy", "32": "Central scotoma", "33": "Retinal detachment", "34": "Scotoma", "35": "Aplasia hypoplasia of the ribs", "36": "Central nervous system cyst", "37": "Focal segmental glomerulosclerosis", "38": "Mitochondrial myopathy", "39": "Abnormality of the musculature of the lower limbs", "40": "Optic neuropathy", "41": "Incomplete penetrance", "42": "Abnormal peripheral myelination", "43": "Severe short stature", "44": "Migraine", "45": "Pathologic fracture", "46": "Abnormal muscle fiber morphology", "47": "Headache", "48": "Limb girdle muscle weakness", "49": "Hydrocephalus"} |