| {"0": "Contractures of the joints of the upper limbs", "1": "Sarcoma", "2": "Disproportionate short limb short stature", "3": "Increased serum pyruvate", "4": "Abnormality of the metaphysis", "5": "Abnormality of the female genitalia", "6": "Limb undergrowth", "7": "Abnormality of lower limb epiphysis morphology", "8": "Neoplasm by histology", "9": "Disproportionate short stature", "10": "Soft tissue sarcoma", "11": "Delayed myelination", "12": "Ectrodactyly", "13": "Congenital malformation of the great arteries", "14": "Abnormal brainstem mri signal intensity", "15": "Renal hypoplasia aplasia", "16": "Renal agenesis", "17": "Hernia", "18": "Fetal distress", "19": "Autistic behavior", "20": "Sensory axonal neuropathy", "21": "Abnormality of upper limb joint", "22": "Joint contracture of the hand", "23": "Patent ductus arteriosus", "24": "Abnormality of the septum pellucidum", "25": "Gonadal neoplasm", "26": "Abnormality of the cerebrospinal fluid", "27": "Neoplasm of the nervous system", "28": "Genital neoplasm", "29": "Intestinal malrotation", "30": "Delayed gross motor development", "31": "Delayed cns myelination", "32": "Focal t2 hyperintense brainstem lesion", "33": "Abnormal thyroid morphology", "34": "Delayed ability to walk", "35": "Short attention span", "36": "Abnormal femoral head morphology", "37": "Paroxysmal involuntary eye movements", "38": "Abnormality of mouth size", "39": "Limb joint contracture", "40": "Polymicrogyria", "41": "Abnormality of earlobe", "42": "Foot dorsiflexor weakness", "43": "Abnormal circulating carbohydrate concentration", "44": "Lower limb amyotrophy", "45": "Decreased head circumference", "46": "Hand muscle weakness", "47": "Impaired social interactions", "48": "Optic disc pallor", "49": "Oral cleft"} |