| {"0": "Abnormal circulating cholesterol concentration", "1": "Abnormal circulating lipid concentration", "2": "Gastrointestinal inflammation", "3": "Rhizomelia", "4": "Skin rash", "5": "Inflammation of the large intestine", "6": "Abnormal muscle fiber morphology", "7": "Disproportionate short stature", "8": "Postaxial polydactyly", "9": "Increased bone mineral density", "10": "Muscle stiffness", "11": "Disproportionate short limb short stature", "12": "Intestinal malrotation", "13": "Hand polydactyly", "14": "Capillary hemangioma", "15": "Lymphopenia", "16": "Abnormal pleura morphology", "17": "Brittle hair", "18": "Lissencephaly", "19": "Thin skin", "20": "Recurrent otitis media", "21": "Absent septum pellucidum", "22": "Mitochondrial myopathy", "23": "Abnormal epiphyseal ossification", "24": "Polydactyly", "25": "Muscle abnormality related to mitochondrial dysfunction", "26": "Aplasia hypoplasia of the skin", "27": "Colitis", "28": "Erythema", "29": "Abnormal aortic valve cusp morphology", "30": "Optic disc pallor", "31": "Limb girdle muscle weakness", "32": "Contractures of the joints of the upper limbs", "33": "Vasculitis", "34": "Abnormal elasticity of skin", "35": "Centrally nucleated skeletal muscle fibers", "36": "Fetal ultrasound soft marker", "37": "Knee flexion contracture", "38": "Ventricular arrhythmia", "39": "Ventricular hypertrophy", "40": "Hyperlipidemia", "41": "Abnormal circulating iga level", "42": "Decreased activity of mitochondrial complex i", "43": "Abnormality of fontanelles", "44": "Delayed cranial suture closure", "45": "Dry skin", "46": "Cns demyelination", "47": "Aplasia hypoplasia involving bones of the thorax", "48": "Elbow flexion contracture", "49": "Wide anterior fontanel"} |