| {"0": "Micromelia", "1": "Hyperlipidemia", "2": "Abnormal neuron morphology", "3": "Disproportionate short stature", "4": "Motor neuron atrophy", "5": "Hand polydactyly", "6": "Platyspondyly", "7": "Abnormal circulating cholesterol concentration", "8": "Disproportionate short limb short stature", "9": "Sensory neuropathy", "10": "2 3 toe syndactyly", "11": "Amyotrophic lateral sclerosis", "12": "Muscle fiber atrophy", "13": "Ascites", "14": "Skin ulcer", "15": "Abnormal pleura morphology", "16": "Incomplete penetrance", "17": "Acute phase response", "18": "Dermal atrophy", "19": "Recurrent fractures", "20": "Action tremor", "21": "Limb undergrowth", "22": "Abnormality of salivation", "23": "Impaired proprioception", "24": "Supranuclear gaze palsy", "25": "Excessive salivation", "26": "Nasogastric tube feeding in infancy", "27": "Arthritis", "28": "Arthralgia", "29": "Cough", "30": "Juvenile onset", "31": "Abnormal muscle fiber morphology", "32": "Corneal opacity", "33": "Parkinsonism", "34": "Dysmetria", "35": "Fibrous tissue neoplasm", "36": "Abnormality of female external genitalia", "37": "Fatigable weakness of swallowing muscles", "38": "Impaired vibratory sensation", "39": "Slowly progressive", "40": "Increased susceptibility to fractures", "41": "Fasciculations", "42": "Renal hypoplasia", "43": "Abnormal conjunctiva morphology", "44": "Abnormal circulating lipid concentration", "45": "Gray matter heterotopia", "46": "Abnormal larynx physiology", "47": "Xerostomia", "48": "Abnormal electroretinogram", "49": "Fatigable weakness of respiratory muscles"} |