| {"0": "Hypocholesterolemia", "1": "Mucosal telangiectasiae", "2": "Bulbar signs", "3": "Abnormal pericardium morphology", "4": "Progressive spastic quadriplegia", "5": "Postural tremor", "6": "Retinal dysplasia", "7": "Macular degeneration", "8": "Chorioretinal dysplasia", "9": "Underdeveloped supraorbital ridges", "10": "Abnormal biliary tract morphology", "11": "Cherry red spot of the macula", "12": "Progressive gait ataxia", "13": "Biliary tract abnormality", "14": "Young adult onset", "15": "Abnormalities of placenta or umbilical cord", "16": "Unusual infection by anatomical site", "17": "Abnormality of the endometrium", "18": "Ragged red muscle fibers", "19": "Epiphyseal stippling", "20": "Muscle stiffness", "21": "Diffuse cerebral atrophy", "22": "Elevated pulmonary artery pressure", "23": "Ascites", "24": "Abnormal epiphyseal ossification", "25": "Ankle clonus", "26": "Disproportionate short limb short stature", "27": "Abnormal conjunctiva morphology", "28": "Acetabular dysplasia", "29": "Duplication involving bones of the feet", "30": "Horizontal nystagmus", "31": "Increased bone mineral density", "32": "Progressive sensorineural hearing impairment", "33": "Delusions", "34": "Disproportionate short stature", "35": "Abnormality of pulmonary circulation", "36": "Polyneuropathy", "37": "Thickened nuchal skin fold", "38": "Abnormality of the phalanges of the toes", "39": "Supranuclear gaze palsy", "40": "Erythema", "41": "Gastrointestinal inflammation", "42": "Abnormality of alkaline phosphatase level", "43": "Profound global developmental delay", "44": "Cns demyelination", "45": "Abnormal corneal epithelium morphology", "46": "Abnormal pleura morphology", "47": "Agnosia", "48": "Red eye", "49": "Impaired vibration sensation in the lower limbs"} |