| {"0": "Reduced consciousness confusion", "1": "Severe infection", "2": "Abnormal brain lactate level by mrs", "3": "Cerebellar hypoplasia", "4": "Thyroiditis", "5": "Stomach cancer", "6": "Motor polyneuropathy", "7": "Aplasia hypoplasia of the cerebellum", "8": "Abnormal t cell subset distribution", "9": "Acidemia", "10": "Feeding difficulties in infancy", "11": "Abnormality of acid base homeostasis", "12": "Rhabdomyolysis", "13": "Athetosis", "14": "Recurrent viral infections", "15": "Abnormality of prothrombin", "16": "Abnormal cortical gyration", "17": "Pancreatic adenocarcinoma", "18": "Radial deviation of the hand or of fingers of the hand", "19": "Multiple cafe au lait spots", "20": "Neoplasm of the stomach", "21": "Rhizomelia", "22": "Abnormality of the cerebrospinal fluid", "23": "Abnormality of the musculature of the limbs", "24": "Neoplasm of the rectum", "25": "Abnormal renal collecting system morphology", "26": "Reticulocytosis", "27": "Amblyopia", "28": "Cerebral hypoplasia", "29": "Esophagitis", "30": "Intrauterine growth retardation", "31": "Delayed ability to sit", "32": "Abnormal internal genitalia", "33": "Abnormal cns myelination", "34": "Peripheral neuropathy", "35": "Gastroesophageal reflux", "36": "Epicanthus", "37": "Reduced visual acuity", "38": "Abnormal t cell morphology", "39": "Developmental regression", "40": "Impaired vibration sensation in the lower limbs", "41": "Nonprogressive", "42": "Intellectual disability severe", "43": "Combined immunodeficiency", "44": "Abnormal b cell morphology", "45": "Glioma", "46": "Increased serum lactate", "47": "Fine hair", "48": "Ventriculomegaly", "49": "Abnormal metabolic brain imaging by mrs"} |