| {"0": "Skin nodule", "1": "Corneal opacity", "2": "Subcutaneous nodule", "3": "Vascular neoplasm", "4": "Dermatological manifestations of systemic disorders", "5": "Ectrodactyly", "6": "Disproportionate short limb short stature", "7": "Talipes equinovarus", "8": "Abnormal circulating lipid concentration", "9": "Abnormal circulating cholesterol concentration", "10": "Clonus", "11": "Hyperconvex nail", "12": "Disproportionate short stature", "13": "Episodic vomiting", "14": "Jaundice", "15": "Nasogastric tube feeding in infancy", "16": "Positional foot deformity", "17": "Limb undergrowth", "18": "Ambiguous genitalia", "19": "Lower limb spasticity", "20": "Aganglionic megacolon", "21": "Cholestasis", "22": "Abnormal pleura morphology", "23": "Brachydactyly", "24": "Increased serum pyruvate", "25": "Sensory axonal neuropathy", "26": "Retinopathy", "27": "Arthrogryposis multiplex congenita", "28": "Anemia of inadequate production", "29": "Action tremor", "30": "Contractures of the joints of the upper limbs", "31": "Dilated fourth ventricle", "32": "Wide nose", "33": "Abnormality of the amniotic fluid", "34": "Preaxial hand polydactyly", "35": "Dysmetria", "36": "Sarcoma", "37": "Decreased muscle mass", "38": "Hand polydactyly", "39": "Abnormal circulating fatty acid concentration", "40": "Abnormal muscle fiber morphology", "41": "Duplication involving bones of the feet", "42": "Contractures of the joints of the lower limbs", "43": "Polyhydramnios", "44": "Multicystic kidney dysplasia", "45": "Abnormal form of the vertebral bodies", "46": "Abnormality of corneal size", "47": "Decreased activity of mitochondrial complex i", "48": "Dry skin", "49": "Abnormality of the gallbladder"} |