| {"0": "Disproportionate short stature", "1": "Dilation of lateral ventricles", "2": "Hypothermia", "3": "Disproportionate short limb short stature", "4": "Abnormal epiphyseal ossification", "5": "Long eyelashes", "6": "Rhizomelia", "7": "Truncal obesity", "8": "Cutaneous syndactyly", "9": "Aplasia hypoplasia of the ribs", "10": "Abnormal lateral ventricle morphology", "11": "Heart block", "12": "Titubation", "13": "Progressive spastic paraplegia", "14": "Hypermetropia", "15": "Enlarged thorax", "16": "Hemivertebrae", "17": "Morphological abnormality of the pyramidal tract", "18": "Abnormal enchondral ossification", "19": "Oromandibular dystonia", "20": "Bilateral ptosis", "21": "Cardiac conduction abnormality", "22": "Abnormality of the auditory canal", "23": "Distal lower limb amyotrophy", "24": "Proximal amyotrophy", "25": "Head tremor", "26": "Talipes equinovarus", "27": "Skin tags", "28": "Abnormal motor nerve conduction velocity", "29": "Abnormal brainstem mri signal intensity", "30": "Spastic paraplegia", "31": "Capillary malformation", "32": "Ectrodactyly", "33": "Atresia of the external auditory canal", "34": "Abnormal urinary electrolyte concentration", "35": "Micromelia", "36": "Wormian bones", "37": "Duplication involving bones of the feet", "38": "Pectus carinatum", "39": "Cerebral visual impairment", "40": "Vertebral clefting", "41": "Early onset of sexual maturation", "42": "Abnormal right ventricle morphology", "43": "Spastic gait", "44": "Aplasia hypoplasia involving bones of the thorax", "45": "Intestinal malrotation", "46": "Impaired vibration sensation in the lower limbs", "47": "Cubitus valgus", "48": "Vertebral segmentation defect", "49": "Abnormal circulating bilirubin concentration"} |