| {"0": "Limb joint contracture", "1": "Pain", "2": "Abnormality of long bone morphology", "3": "Abnormality of the fontanelles or cranial sutures", "4": "Muscle weakness", "5": "Phenotypic variability", "6": "Abnormal fear anxiety related behavior", "7": "Abnormality of the cerebrospinal fluid", "8": "Depression", "9": "Respiratory insufficiency", "10": "Constitutional symptom", "11": "Abnormal bleeding", "12": "Abnormal pyramidal sign", "13": "Amyotrophic lateral sclerosis", "14": "Abnormal sternum morphology", "15": "Xerostomia", "16": "Abnormality of the curvature of the vertebral column", "17": "Abnormality of upper limb joint", "18": "Abnormality of circulating enzyme level", "19": "Abnormality of lower limb joint", "20": "Abnormal csf protein level", "21": "Abnormal uvea morphology", "22": "Abnormality of the calvaria", "23": "Abnormal circulating protein concentration", "24": "Abnormality of the peripheral nervous system", "25": "Abnormality of the mitochondrion", "26": "Abnormal bone structure", "27": "Abnormal renal physiology", "28": "Abnormality of the parathyroid gland", "29": "Wide anterior fontanel", "30": "Abnormal tendon morphology", "31": "Abnormality of the bladder", "32": "Ragged red muscle fibers", "33": "Abnormal vertebral morphology", "34": "Babinski sign", "35": "Abnormal muscle fiber morphology", "36": "Hyperreflexia", "37": "Abnormal joint morphology", "38": "Abnormal peripheral nervous system morphology", "39": "Episodic vomiting", "40": "Abnormality of the knee", "41": "Abnormality of the palm", "42": "Dicarboxylic aciduria", "43": "Dyspnea", "44": "Kyphosis", "45": "Abnormal pattern of respiration", "46": "Dysphagia", "47": "Functional motor deficit", "48": "Abnormal circulating gonadotropin concentration", "49": "Skeletal muscle atrophy"} |