| {"0": "Abnormal biliary tract morphology", "1": "Postural tremor", "2": "Abnormal muscle fiber morphology", "3": "Bulbar signs", "4": "Toe walking", "5": "Neck muscle weakness", "6": "Biliary tract abnormality", "7": "Subcutaneous nodule", "8": "Horizontal nystagmus", "9": "Morphological abnormality of the pyramidal tract", "10": "Schizophrenia", "11": "Central scotoma", "12": "Impaired vibratory sensation", "13": "Skin nodule", "14": "Underdeveloped supraorbital ridges", "15": "Chorea", "16": "Polyneuropathy", "17": "Lower limb spasticity", "18": "Gowers sign", "19": "Variable expressivity", "20": "Peripheral demyelination", "21": "Progressive gait ataxia", "22": "Wormian bones", "23": "Thoracic scoliosis", "24": "Abnormality of the mitochondrion", "25": "Scotoma", "26": "Limb girdle muscle weakness", "27": "Muscle stiffness", "28": "Sensorimotor neuropathy", "29": "Limb muscle weakness", "30": "Muscle fibrillation", "31": "Areflexia of lower limbs", "32": "Distal lower limb muscle weakness", "33": "Posterior embryotoxon", "34": "Abnormality of the umbilical cord", "35": "Difficulty walking", "36": "Motor neuron atrophy", "37": "Impaired proprioception", "38": "Shoulder girdle muscle weakness", "39": "Waddling gait", "40": "Dyskinesia", "41": "Airway obstruction", "42": "Abnormal delivery", "43": "Abnormality of the musculature of the lower limbs", "44": "Abnormality of the knee", "45": "Abnormal activity of mitochondrial respiratory chain", "46": "Proximal muscle weakness", "47": "Action tremor", "48": "Wide anterior fontanel", "49": "Phenotypic variability"} |