| {"0": "Neoplasm of the endocrine system", "1": "Platyspondyly", "2": "Skin ulcer", "3": "Micromelia", "4": "Abnormality of pancreas physiology", "5": "Ragged red muscle fibers", "6": "Limb undergrowth", "7": "Biliary tract abnormality", "8": "Abnormal biliary tract morphology", "9": "Postural tremor", "10": "Incomplete penetrance", "11": "Frontotemporal dementia", "12": "Degeneration of the lateral corticospinal tracts", "13": "Clonus", "14": "Sarcoma", "15": "Toe walking", "16": "Dyscalculia", "17": "Disproportionate short stature", "18": "Neoplasm of the nervous system", "19": "Action tremor", "20": "Arthritis", "21": "Memory impairment", "22": "Amyotrophic lateral sclerosis", "23": "Psychosis", "24": "Abnormal lower motor neuron morphology", "25": "Echolalia", "26": "Telangiectasia", "27": "Motor neuron atrophy", "28": "Impaired proprioception", "29": "Cardiac conduction abnormality", "30": "Increased bone mineral density", "31": "Abnormal neuron morphology", "32": "Parkinsonism", "33": "Increased susceptibility to fractures", "34": "Abnormal vascular physiology", "35": "Neoplasm of the skeletal system", "36": "Abnormal muscle fiber morphology", "37": "Heterogeneous", "38": "Hallucinations", "39": "Impaired vibratory sensation", "40": "Optic disc pallor", "41": "Abnormal electroretinogram", "42": "Abnormality of the metaphysis", "43": "Abnormality of the ovary", "44": "Underdeveloped supraorbital ridges", "45": "Proximal amyotrophy", "46": "Abnormal corpus striatum morphology", "47": "Abnormal conjunctiva morphology", "48": "Abnormal circulating dicarboxylic acid concentration", "49": "Fasciculations"} |