| {"0": "Peripheral axonal neuropathy", "1": "Abnormal muscle fiber morphology", "2": "Sensorimotor neuropathy", "3": "Cns demyelination", "4": "Abnormal circulating cholesterol concentration", "5": "Phenotypic variability", "6": "Impaired proprioception", "7": "Abnormality of fontanelles", "8": "Abnormal csf protein level", "9": "Abnormality of the achilles tendon", "10": "Polyneuropathy", "11": "Muscle stiffness", "12": "Optic disc pallor", "13": "Abnormal circulating lipid concentration", "14": "Hypocholesterolemia", "15": "Schizophrenia", "16": "Rhizomelia", "17": "Difficulty walking", "18": "Mania", "19": "Bilateral sensorineural hearing impairment", "20": "Myopathy", "21": "Tapered finger", "22": "Secondary microcephaly", "23": "Shoulder girdle muscle weakness", "24": "Impaired vibratory sensation", "25": "Abnormality of the shoulder girdle musculature", "26": "Peripheral axonal degeneration", "27": "Ventricular hypertrophy", "28": "Horizontal nystagmus", "29": "Delusions", "30": "Abnormal social behavior", "31": "Limb joint contracture", "32": "Dysdiadochokinesis", "33": "Thin ribs", "34": "Muscle abnormality related to mitochondrial dysfunction", "35": "Neck muscle weakness", "36": "Contractures of the joints of the upper limbs", "37": "Achilles tendon contracture", "38": "Delayed cranial suture closure", "39": "Abnormal epiphyseal ossification", "40": "Tetraplegia tetraparesis", "41": "Limb girdle muscle weakness", "42": "Increased csf lactate", "43": "Progressive gait ataxia", "44": "Memory impairment", "45": "Abnormality of femur morphology", "46": "Bulbous nose", "47": "Impaired social interactions", "48": "Mental deterioration", "49": "Kinetic tremor"} |