| {"0": "Scotoma", "1": "Central scotoma", "2": "Abnormality of the phalanges of the toes", "3": "Abnormal circulating non proteinogenic amino acid concentration", "4": "Abnormal epiphyseal ossification", "5": "Decreased absent ankle reflexes", "6": "Breech presentation", "7": "Aplasia hypoplasia of the femur", "8": "Episodic vomiting", "9": "External ear malformation", "10": "Abnormal pleura morphology", "11": "Color vision defect", "12": "Aplasia hypoplasia involving the femoral head and neck", "13": "Horizontal nystagmus", "14": "Pleural effusion", "15": "Nasogastric tube feeding in infancy", "16": "Aplasia hypoplasia involving the pelvis", "17": "Disproportionate short limb short stature", "18": "Increased connective tissue", "19": "Round face", "20": "Thin ribs", "21": "Coxa vara", "22": "Achilles tendon contracture", "23": "Muscle stiffness", "24": "Severe muscular hypotonia", "25": "Abnormality of coordination", "26": "Abnormal femoral head morphology", "27": "Abnormality of the achilles tendon", "28": "Underdeveloped supraorbital ridges", "29": "Gait disturbance", "30": "Progressive visual loss", "31": "Aplasia hypoplasia involving the vertebral column", "32": "Disproportionate short stature", "33": "Abnormal corneal epithelium morphology", "34": "Microretrognathia", "35": "Serositis", "36": "Posterior embryotoxon", "37": "Flat forehead", "38": "Abnormal delivery", "39": "Retinal vascular tortuosity", "40": "Epistaxis", "41": "Abnormal cardiac ventricular function", "42": "Adducted thumb", "43": "Contractures involving the joints of the feet", "44": "Sensory neuropathy", "45": "Visual field defect", "46": "Metatarsus adductus", "47": "Retinopathy", "48": "Skin rash", "49": "Hemiplegia hemiparesis"} |