| {"0": "Distal muscle weakness", "1": "Finger syndactyly", "2": "Abnormal muscle fiber type distribution", "3": "Clubbing", "4": "Lumbar hyperlordosis", "5": "Small hand", "6": "Abnormality of hair pigmentation", "7": "Waddling gait", "8": "Gray matter heterotopia", "9": "Abnormality of lower limb epiphysis morphology", "10": "Abnormal ileum morphology", "11": "Toe walking", "12": "Metaphyseal irregularity", "13": "Abnormality of dental eruption", "14": "Skin ulcer", "15": "Abnormal synaptic transmission at the neuromuscular junction", "16": "Gastrostomy tube feeding in infancy", "17": "Recurrent pneumonia", "18": "Neoplasm of the pituitary gland", "19": "Difficulty running", "20": "Limb undergrowth", "21": "Proximal amyotrophy", "22": "Aplasia hypoplasia of the phalanges of the thumb", "23": "Ectrodactyly", "24": "Slowly progressive", "25": "Recurrent lower respiratory tract infections", "26": "Motor axonal neuropathy", "27": "Dry skin", "28": "Venous thrombosis", "29": "Tremor by anatomical site", "30": "Hammertoe", "31": "Pituitary adenoma", "32": "Abnormality of the calf musculature", "33": "Scapular winging", "34": "Abnormal peripheral nervous system physiology", "35": "Sloping forehead", "36": "Colitis", "37": "Fragile nails", "38": "Decreased fertility in males", "39": "Short foot", "40": "Abnormal eating behavior", "41": "Eczema", "42": "Distal amyotrophy", "43": "Tapered finger", "44": "Abnormality of the hypothalamus pituitary axis", "45": "Neoplasm by histology", "46": "Hyperlordosis", "47": "Camptodactyly of toe", "48": "Simplified gyral pattern", "49": "Abnormality of limb epiphysis morphology"} |