| {"0": "Thin ribs", "1": "Abnormal biliary tract morphology", "2": "Delayed cranial suture closure", "3": "Sensorimotor neuropathy", "4": "Postaxial polydactyly", "5": "Biliary tract abnormality", "6": "Abnormality of fontanelles", "7": "Hand polydactyly", "8": "Abnormal muscle fiber morphology", "9": "Underdeveloped supraorbital ridges", "10": "Delusions", "11": "Duplication involving bones of the feet", "12": "Polyneuropathy", "13": "Abnormal circulating lipid concentration", "14": "Abnormal epiphyseal ossification", "15": "Polydactyly", "16": "Deep palmar crease", "17": "Optic disc pallor", "18": "Abnormality of skull ossification", "19": "Muscle stiffness", "20": "Episodic vomiting", "21": "Contractures of the joints of the upper limbs", "22": "Retinopathy", "23": "Muscle abnormality related to mitochondrial dysfunction", "24": "Bulbar signs", "25": "Ragged red muscle fibers", "26": "Abnormality of cranial sutures", "27": "Horizontal nystagmus", "28": "Abnormality of the mitochondrion", "29": "Optic neuropathy", "30": "Dementia", "31": "Abnormal circulating cholesterol concentration", "32": "Rimmed vacuoles", "33": "Abnormal middle phalanx morphology of the hand", "34": "Abnormal activity of mitochondrial respiratory chain", "35": "Muscle fiber atrophy", "36": "Hallucinations", "37": "Abnormality of the fontanelles or cranial sutures", "38": "Abnormal nephron morphology", "39": "Abnormality of the cerebrospinal fluid", "40": "Toe walking", "41": "Submucous cleft of soft and hard palate", "42": "Pathologic fracture", "43": "Brittle hair", "44": "Zonular cataract", "45": "Mitochondrial myopathy", "46": "Epiphyseal stippling", "47": "Abnormal enchondral ossification", "48": "Rhizomelia", "49": "Bulbous nose"} |