| {"0": "Abnormal muscle fiber morphology", "1": "Ventricular arrhythmia", "2": "Sensorimotor neuropathy", "3": "Disproportionate short stature", "4": "Disproportionate short limb short stature", "5": "Tremor by anatomical site", "6": "Contractures of the joints of the upper limbs", "7": "Impaired proprioception", "8": "Ragged red muscle fibers", "9": "Rhizomelia", "10": "Broad palm", "11": "Abnormal corneal epithelium morphology", "12": "Abnormality of the 5th toe", "13": "Postaxial foot polydactyly", "14": "Abnormal peripheral myelination", "15": "Muscle fiber atrophy", "16": "Abnormal pyramidal sign", "17": "Areflexia of lower limbs", "18": "Muscle spasm", "19": "Distal muscle weakness", "20": "Muscle abnormality related to mitochondrial dysfunction", "21": "Cardiac conduction abnormality", "22": "Elevated pulmonary artery pressure", "23": "Abnormal enchondral ossification", "24": "Proximal amyotrophy", "25": "Foot dorsiflexor weakness", "26": "Optic neuropathy", "27": "Abnormality of pulmonary circulation", "28": "Thin ribs", "29": "Abnormal epiphyseal ossification", "30": "Babinski sign", "31": "Increased csf lactate", "32": "Limb muscle weakness", "33": "Distal upper limb amyotrophy", "34": "Abnormality of salivation", "35": "Mitochondrial myopathy", "36": "Limb joint contracture", "37": "Retinopathy", "38": "Slowly progressive", "39": "Postaxial hand polydactyly", "40": "Morphological abnormality of the pyramidal tract", "41": "Delayed cranial suture closure", "42": "Underdeveloped supraorbital ridges", "43": "Abnormality of the musculature of the hand", "44": "Poor eye contact", "45": "Action tremor", "46": "Dysdiadochokinesis", "47": "Motor neuron atrophy", "48": "Dental crowding", "49": "Joint contracture of the hand"} |