| {"0": "Central scotoma", "1": "Bulbar signs", "2": "Pleural effusion", "3": "Degeneration of the lateral corticospinal tracts", "4": "Scotoma", "5": "Color vision defect", "6": "Glomerulopathy", "7": "Neck muscle weakness", "8": "Slender long bone", "9": "Abnormality of skull ossification", "10": "Unusual infection by anatomical site", "11": "Ragged red muscle fibers", "12": "Progressive spastic quadriplegia", "13": "Wormian bones", "14": "Coxa vara", "15": "Abnormal biliary tract morphology", "16": "Echolalia", "17": "Abnormal csf protein level", "18": "Limited hip movement", "19": "Polyneuropathy", "20": "Peripheral demyelination", "21": "Preaxial polydactyly", "22": "Episodic vomiting", "23": "Aganglionic megacolon", "24": "Atrophy degeneration involving the corticospinal tracts", "25": "Rhizomelia", "26": "Morphological abnormality of the pyramidal tract", "27": "Horizontal nystagmus", "28": "Epiphyseal stippling", "29": "Abnormal retinal artery morphology", "30": "External ear malformation", "31": "Decreased absent ankle reflexes", "32": "Postural tremor", "33": "Retinal detachment", "34": "Morphological abnormality of the corticospinal tract", "35": "Hammertoe", "36": "Abnormal brainstem mri signal intensity", "37": "Emg chronic denervation signs", "38": "Abnormal femoral head morphology", "39": "Aplasia hypoplasia involving the vertebral column", "40": "Focal t2 hyperintense brainstem lesion", "41": "Biliary tract abnormality", "42": "Ectrodactyly", "43": "Limb girdle muscle weakness", "44": "Underdeveloped supraorbital ridges", "45": "Decreased number of peripheral myelinated nerve fibers", "46": "Tissue ischemia", "47": "Erythema", "48": "Focal dystonia", "49": "Sensorimotor neuropathy"} |