| {"0": "Ragged red muscle fibers", "1": "Sensory neuropathy", "2": "Toe walking", "3": "Muscle stiffness", "4": "Disproportionate short stature", "5": "Abnormal enchondral ossification", "6": "Abnormal epiphyseal ossification", "7": "Micromelia", "8": "Rhizomelia", "9": "Disproportionate short limb short stature", "10": "Abnormal muscle fiber morphology", "11": "Sensorimotor neuropathy", "12": "Increased serum pyruvate", "13": "Severe muscular hypotonia", "14": "Abnormal delivery", "15": "Bulbar signs", "16": "Ectrodactyly", "17": "Muscle fiber atrophy", "18": "Multiple joint contractures", "19": "Abnormality of the musculature of the lower limbs", "20": "Single transverse palmar crease", "21": "Motor axonal neuropathy", "22": "Bilateral sensorineural hearing impairment", "23": "Platyspondyly", "24": "Proximal amyotrophy", "25": "Positive romberg sign", "26": "Waddling gait", "27": "Sensory axonal neuropathy", "28": "Aplasia hypoplasia involving the vertebral column", "29": "Nasogastric tube feeding in infancy", "30": "Ventricular arrhythmia", "31": "Neck muscle weakness", "32": "Limb girdle muscle weakness", "33": "Recurrent fractures", "34": "Tachycardia", "35": "Morphological abnormality of the pyramidal tract", "36": "Mitochondrial myopathy", "37": "Muscle abnormality related to mitochondrial dysfunction", "38": "Peripheral demyelination", "39": "Horizontal nystagmus", "40": "Tapered finger", "41": "Abnormal circulating carbohydrate concentration", "42": "Abnormal morphology of the musculature of the neck", "43": "Limb girdle muscle atrophy", "44": "Demyelinating peripheral neuropathy", "45": "Difficulty running", "46": "Abnormal lung lobation", "47": "Generalized muscle weakness", "48": "Thoracic scoliosis", "49": "Aplasia hypoplasia of the femur"} |