| {"0": "Central scotoma", "1": "Multiple cafe au lait spots", "2": "Bulbar signs", "3": "Scotoma", "4": "Positive romberg sign", "5": "Abnormal lung lobation", "6": "Wormian bones", "7": "Cns demyelination", "8": "Muscle stiffness", "9": "Abnormalities of placenta or umbilical cord", "10": "Retinal vascular tortuosity", "11": "Onion bulb formation", "12": "Intellectual disability progressive", "13": "Abnormal spermatogenesis", "14": "Abnormal brainstem mri signal intensity", "15": "Episodic vomiting", "16": "Abnormal biliary tract morphology", "17": "Abnormal carotid artery morphology", "18": "Focal t2 hyperintense brainstem lesion", "19": "Pathologic fracture", "20": "Hypomimic face", "21": "Deep palmar crease", "22": "Increased bone mineral density", "23": "Slender long bone", "24": "Abnormality of the phalanges of the toes", "25": "Biliary tract abnormality", "26": "Paroxysmal involuntary eye movements", "27": "Hypopigmented skin patches", "28": "Decreased activity of mitochondrial complex i", "29": "Ectopic kidney", "30": "Abnormal mitochondria in muscle tissue", "31": "Dicarboxylic aciduria", "32": "Disproportionate short limb short stature", "33": "Abnormal corneal epithelium morphology", "34": "Short palpebral fissure", "35": "Ectrodactyly", "36": "Micromelia", "37": "Morphological abnormality of the pyramidal tract", "38": "Abnormal renal tubule morphology", "39": "Tissue ischemia", "40": "Disproportionate short stature", "41": "Personality changes", "42": "Rimmed vacuoles", "43": "Optic neuropathy", "44": "Polyneuropathy", "45": "Decreased number of peripheral myelinated nerve fibers", "46": "Venous insufficiency", "47": "Airway obstruction", "48": "Aplasia hypoplasia involving forearm bones", "49": "Abnormal talus morphology"} |