| {"0": "Sparse lateral eyebrow", "1": "Ragged red muscle fibers", "2": "Goiter", "3": "Abnormalities of placenta or umbilical cord", "4": "Morphological abnormality of the corticospinal tract", "5": "Atrophy degeneration involving the corticospinal tracts", "6": "Fibrous tissue neoplasm", "7": "Increased intracranial pressure", "8": "Inflammation of the large intestine", "9": "Retinal detachment", "10": "Abnormality of the phalanges of the toes", "11": "Cerebral palsy", "12": "Abnormal biliary tract morphology", "13": "Muscle stiffness", "14": "Impaired antigen specific response", "15": "Abnormal csf protein level", "16": "Morphological abnormality of the pyramidal tract", "17": "Underdeveloped supraorbital ridges", "18": "Postural tremor", "19": "Biliary tract abnormality", "20": "Delusions", "21": "Gastrointestinal inflammation", "22": "Shoulder girdle muscle weakness", "23": "Abnormal pleura morphology", "24": "Neck muscle weakness", "25": "Bruising susceptibility", "26": "Schizophrenia", "27": "Papule", "28": "Easy fatigability", "29": "Retinopathy", "30": "Limb girdle muscle weakness", "31": "Wide intermamillary distance", "32": "Difficulty running", "33": "Bradycardia", "34": "Generalized hyperpigmentation", "35": "Profound global developmental delay", "36": "Peripheral demyelination", "37": "Abnormal muscle fiber type distribution", "38": "Optic neuropathy", "39": "Mitochondrial myopathy", "40": "Neutropenia in presence of anti neutropil antibodies", "41": "Ventricular tachycardia", "42": "Hypoventilation", "43": "Breast carcinoma", "44": "Knee flexion contracture", "45": "External ear malformation", "46": "Abnormal synaptic transmission at the neuromuscular junction", "47": "Focal t2 hyperintense brainstem lesion", "48": "Severe muscular hypotonia", "49": "Abnormal brainstem mri signal intensity"} |