| {"0": "Small earlobe", "1": "Centrally nucleated skeletal muscle fibers", "2": "Aplasia hypoplasia of the earlobes", "3": "Turricephaly", "4": "Abnormal tricuspid valve morphology", "5": "Type 1 muscle fiber atrophy", "6": "Peripheral demyelination", "7": "Central scotoma", "8": "Abnormality of the musculature of the thigh", "9": "Respiratory arrest", "10": "Cutaneous syndactyly", "11": "Rimmed vacuoles", "12": "Laryngomalacia", "13": "Retinal vascular tortuosity", "14": "Anencephaly", "15": "Abnormal biliary tract morphology", "16": "Infectious encephalitis", "17": "Aplasia hypoplasia involving the femoral head and neck", "18": "Coxa vara", "19": "Dysphasia", "20": "Bulbar signs", "21": "Muscle stiffness", "22": "Postural tremor", "23": "Schizophrenia", "24": "Morphological abnormality of the pyramidal tract", "25": "Airway obstruction", "26": "Abnormal corpus striatum morphology", "27": "Myotonia", "28": "Scotoma", "29": "Acne", "30": "Abnormality of earlobe", "31": "Metatarsus adductus", "32": "Disproportionate short limb short stature", "33": "Abnormal astrocyte morphology", "34": "Neurodegeneration", "35": "Abnormal choroid morphology", "36": "Abnormal chorioretinal morphology", "37": "Spastic paraparesis", "38": "Biliary tract abnormality", "39": "Abnormal aortic arch morphology", "40": "Aplasia hypoplasia of the femur", "41": "Posterior embryotoxon", "42": "Abnormal circulating ferritin concentration", "43": "Abnormal peripheral myelination", "44": "Supraventricular arrhythmia", "45": "Congenital nystagmus", "46": "Abnormal size of the clitoris", "47": "Tachycardia", "48": "Abnormal pulmonary valve morphology", "49": "Cerebral inclusion bodies"} |