| {"0": "Disproportionate short limb short stature", "1": "Mucosal telangiectasiae", "2": "Disproportionate short stature", "3": "Retinal coloboma", "4": "Duplication involving bones of the feet", "5": "Hemianopia", "6": "Aplasia hypoplasia involving the vertebral column", "7": "Unilateral renal agenesis", "8": "Abnormality of corneal stroma", "9": "Skin nodule", "10": "Subcutaneous nodule", "11": "Melanocytic nevus", "12": "Abnormal corneal epithelium morphology", "13": "Micromelia", "14": "Sensory axonal neuropathy", "15": "Erythema", "16": "Macular degeneration", "17": "Intellectual disability progressive", "18": "Postural tremor", "19": "Recurrent otitis media", "20": "Motor neuron atrophy", "21": "Abnormality of ocular smooth pursuit", "22": "Abnormal brainstem mri signal intensity", "23": "Neoplasm of the pituitary gland", "24": "Tinnitus", "25": "Frontotemporal dementia", "26": "Coxa vara", "27": "Confusion", "28": "Synostosis involving bones of the hand", "29": "Abnormal gastrointestinal motility", "30": "Nasogastric tube feeding", "31": "Hyperostosis", "32": "Aplasia hypoplasia of toe", "33": "Hand polydactyly", "34": "Submucous cleft of soft and hard palate", "35": "Severe short stature", "36": "Platyspondyly", "37": "Increased intracranial pressure", "38": "Proportionate short stature", "39": "Abnormality of the metacarpal bones", "40": "Demyelinating peripheral neuropathy", "41": "Cranial hyperostosis", "42": "Hyperintensity of cerebral white matter on mri", "43": "Abnormal conjunctiva morphology", "44": "Short palm", "45": "Fibrous tissue neoplasm", "46": "Aplasia hypoplasia of the ribs", "47": "Dysdiadochokinesis", "48": "Thoracic kyphosis", "49": "Gingival bleeding"} |