| {"0": "Toe walking", "1": "Ragged red muscle fibers", "2": "Abnormal muscle fiber morphology", "3": "Tremor by anatomical site", "4": "Abnormality of fontanelles", "5": "Sensorimotor neuropathy", "6": "Abnormality of peripheral nerves", "7": "Hammertoe", "8": "Easy fatigability", "9": "Abnormal delivery", "10": "Contractures of the joints of the lower limbs", "11": "Wide anterior fontanel", "12": "Abnormality of the shoulder girdle musculature", "13": "Abnormal peripheral nervous system physiology", "14": "Wormian bones", "15": "Ectrodactyly", "16": "Abnormal nerve conduction velocity", "17": "Slowly progressive", "18": "Decreased activity of mitochondrial complex iv", "19": "Delayed cranial suture closure", "20": "Abnormal femoral neck head morphology", "21": "Morphological abnormality of the pyramidal tract", "22": "Contractures of the joints of the upper limbs", "23": "Chronic otitis media", "24": "Neck muscle weakness", "25": "Abnormality of the anterior fontanelle", "26": "Disproportionate short limb short stature", "27": "Distal muscle weakness", "28": "Muscle fiber atrophy", "29": "Scapular winging", "30": "Proximal muscle weakness in upper limbs", "31": "Diminished movement", "32": "Delayed ability to walk", "33": "Abnormal sclera morphology", "34": "Disproportionate short stature", "35": "Blue sclerae", "36": "Amyotrophic lateral sclerosis", "37": "Metatarsus adductus", "38": "Abnormality of limb epiphysis morphology", "39": "Head tremor", "40": "Bulbar signs", "41": "Generalized muscle weakness", "42": "Nasogastric tube feeding in infancy", "43": "Abnormal oral physiology", "44": "Abnormal activity of mitochondrial respiratory chain", "45": "Abnormal metatarsal morphology", "46": "Abnormal brainstem mri signal intensity", "47": "Aplasia hypoplasia of the optic nerve", "48": "Talipes equinovarus", "49": "Severe muscular hypotonia"} |