| {"0": "Coxa vara", "1": "Symptomatic seizures", "2": "Zonular cataract", "3": "Abnormal aortic arch morphology", "4": "Ragged red muscle fibers", "5": "Spinal canal stenosis", "6": "Postaxial polydactyly", "7": "Postaxial hand polydactyly", "8": "Wormian bones", "9": "Duplication involving bones of the feet", "10": "Optic nerve hypoplasia", "11": "Rimmed vacuoles", "12": "Hypergonadotropic hypogonadism", "13": "Abnormal brainstem mri signal intensity", "14": "External ophthalmoplegia", "15": "Abnormal cardiac ventricular function", "16": "Colpocephaly", "17": "Overlapping toe", "18": "Abnormality of the tarsal bones", "19": "Aplasia hypoplasia of the optic nerve", "20": "Lymphopenia", "21": "Abnormal circulating gonadotropin concentration", "22": "Mania", "23": "Motor axonal neuropathy", "24": "Excessive daytime somnolence", "25": "Abnormal enchondral ossification", "26": "Increased serum pyruvate", "27": "Abnormal mitochondria in muscle tissue", "28": "Muscle fiber atrophy", "29": "Tachypnea", "30": "Hamartoma", "31": "Hypoplasia of the brainstem", "32": "Abnormal clavicle morphology", "33": "Hand polydactyly", "34": "Increased intracranial pressure", "35": "Focal dystonia", "36": "Hemiplegia hemiparesis", "37": "Migraine", "38": "Severe short stature", "39": "Short palpebral fissure", "40": "Proximal tubulopathy", "41": "Abnormality of the thymus", "42": "Aplasia hypoplasia of the uterus", "43": "Abnormality of the humeroradial joint", "44": "Aplasia hypoplasia affecting the fundus", "45": "Ectopic anus", "46": "Disproportionate short stature", "47": "Abnormal thoracic spine morphology", "48": "Micromelia", "49": "Aplasia hypoplasia involving bones of the thorax"} |