| {"0": "Mental deterioration", "1": "Low set posteriorly rotated ears", "2": "Schizophrenia", "3": "Hallucinations", "4": "Hydrocephalus", "5": "Positional foot deformity", "6": "Hand polydactyly", "7": "Abnormal circulating lipid concentration", "8": "Abnormality of the cerebrospinal fluid", "9": "Toe walking", "10": "Duplication involving bones of the feet", "11": "Polydactyly", "12": "Action tremor", "13": "Abnormal muscle fiber morphology", "14": "Optic disc pallor", "15": "Cognitive impairment", "16": "Biliary tract abnormality", "17": "Abnormality of the metacarpal bones", "18": "Posteriorly rotated ears", "19": "Delusions", "20": "Postaxial polydactyly", "21": "Clumsiness", "22": "Dementia", "23": "Abnormal heart valve morphology", "24": "Ventricular hypertrophy", "25": "Abnormal nipple morphology", "26": "Limitation of joint mobility", "27": "Abnormal circulating cholesterol concentration", "28": "Abnormal lower limb bone morphology", "29": "Enlarged thorax", "30": "Amyotrophic lateral sclerosis", "31": "Aplasia hypoplasia of the optic nerve", "32": "Muscle stiffness", "33": "Abnormality of the ureter", "34": "Optic nerve hypoplasia", "35": "Bulbar signs", "36": "Disproportionate short limb short stature", "37": "Contractures of the joints of the upper limbs", "38": "Confusion", "39": "Disproportionate short stature", "40": "Abnormality of visual evoked potentials", "41": "Motor neuron atrophy", "42": "Abnormal biliary tract morphology", "43": "Kyphosis", "44": "Abnormal circulating bilirubin concentration", "45": "Osteopenia", "46": "Abnormality of upper limb joint", "47": "Talipes equinovarus", "48": "Renal agenesis", "49": "Knee flexion contracture"} |