| {"0": "Abnormality of corneal stroma", "1": "Cherry red spot of the macula", "2": "Postaxial hand polydactyly", "3": "Positive romberg sign", "4": "Preaxial polydactyly", "5": "Abnormal midbrain morphology", "6": "Preaxial hand polydactyly", "7": "Abnormality of the 5th toe", "8": "Postaxial foot polydactyly", "9": "Disproportionate short limb short stature", "10": "Abnormal biliary tract morphology", "11": "Biliary tract abnormality", "12": "Abnormal retinal artery morphology", "13": "Limb ataxia", "14": "Abnormal oral frenulum morphology", "15": "Disproportionate short stature", "16": "Postaxial polydactyly", "17": "Oculomotor apraxia", "18": "Basal ganglia calcification", "19": "Clumsiness", "20": "Dysdiadochokinesis", "21": "Brittle hair", "22": "Multicystic kidney dysplasia", "23": "Abnormal pulmonary interstitial morphology", "24": "Ascites", "25": "Abnormality of head blood vessel", "26": "Muscle stiffness", "27": "Abnormal acetabulum morphology", "28": "Central scotoma", "29": "Abnormalities of placenta or umbilical cord", "30": "Type i diabetes mellitus", "31": "Postural tremor", "32": "Delusions", "33": "Hand polydactyly", "34": "Spastic paraparesis", "35": "Progressive visual loss", "36": "Polyneuropathy", "37": "Cone shaped epiphysis", "38": "External ear malformation", "39": "Decreased circulating level of specific antibody", "40": "Duplication involving bones of the feet", "41": "Abnormal metatarsal morphology", "42": "Abnormal anterior eye segment morphology", "43": "Skin nodule", "44": "Aplasia hypoplasia involving the vertebral column", "45": "Cns demyelination", "46": "Abnormal circulating cholesterol concentration", "47": "Bronchitis", "48": "Chronic diarrhea", "49": "Hypomimic face"} |