| {"0": "Language impairment", "1": "Muscle weakness", "2": "Abnormal muscle fiber morphology", "3": "Absent septum pellucidum", "4": "Limb undergrowth", "5": "Irritability", "6": "Abnormality of the pituitary gland", "7": "Ragged red muscle fibers", "8": "Abnormality of the hypothalamus pituitary axis", "9": "Long eyelashes", "10": "Cerebral visual impairment", "11": "Respiratory distress", "12": "Aplasia hypoplasia involving the skeleton", "13": "Migraine", "14": "Wide nose", "15": "Abnormal conjugate eye movement", "16": "Rigidity", "17": "Retinal dystrophy", "18": "Generalized hypotonia", "19": "Abnormal growth hormone level", "20": "Macrocytic anemia", "21": "Aplasia hypoplasia of the extremities", "22": "Progressive inability to walk", "23": "Disproportionate short stature", "24": "Hypopituitarism", "25": "Memory impairment", "26": "Abnormality of circulating enzyme level", "27": "Abnormal corpus callosum morphology", "28": "Abnormal involuntary eye movements", "29": "Subcutaneous nodule", "30": "Feeding difficulties", "31": "Flat face", "32": "Abnormality of the septum pellucidum", "33": "External ophthalmoplegia", "34": "Skeletal dysplasia", "35": "Action tremor", "36": "Ambiguous genitalia", "37": "Abnormal circulating protein concentration", "38": "Impaired proprioception", "39": "Abnormal urine ph", "40": "Cognitive impairment", "41": "Reduced tendon reflexes", "42": "Hypsarrhythmia", "43": "Atrophy degeneration affecting the central nervous system", "44": "Abnormal duodenum morphology", "45": "Thick eyebrow", "46": "Fetal distress", "47": "Proximal muscle weakness", "48": "Dysphagia", "49": "Tremor"} |