{"0": "Abnormal vertebral morphology", "1": "Aplasia hypoplasia of the extremities", "2": "Abnormal bone structure", "3": "Cerebral palsy", "4": "Upper limb spasticity", "5": "Abnormality of long bone morphology", "6": "Aplasia hypoplasia involving the skeleton", "7": "Abnormality of the peripheral nervous system", "8": "Muscle weakness", "9": "Cerebellar hypoplasia", "10": "Recurrent fractures", "11": "Platyspondyly", "12": "Neoplasm by histology", "13": "Abnormality of hindbrain morphology", "14": "Aganglionic megacolon", "15": "Feeding difficulties", "16": "Abnormality of the thyroid gland", "17": "Disproportionate short limb short stature", "18": "Abnormality of bone mineral density", "19": "Abnormality of the curvature of the vertebral column", "20": "Puberty and gonadal disorders", "21": "Aplasia hypoplasia of the cerebellum", "22": "Phenotypic variability", "23": "Abnormality of the fontanelles or cranial sutures", "24": "Broad neck", "25": "Localized skin lesion", "26": "Downslanted palpebral fissures", "27": "Abnormal form of the vertebral bodies", "28": "Abnormal renal physiology", "29": "Duplication involving bones of the feet", "30": "Skin rash", "31": "Abnormality of the cerebrospinal fluid", "32": "Abnormality of the breast", "33": "Abnormal lower limb bone morphology", "34": "Progressive", "35": "Abnormality of the bladder", "36": "Cystic hygroma", "37": "Recurrent otitis media", "38": "Limb undergrowth", "39": "Disproportionate short stature", "40": "Abnormal blood transition element cation concentration", "41": "Early onset of sexual maturation", "42": "Feeding difficulties in infancy", "43": "Abnormal involuntary eye movements", "44": "Reduced consciousness confusion", "45": "Hemiparesis", "46": "Aplasia hypoplasia affecting the eye", "47": "Postaxial polydactyly", "48": "Abnormality of pelvic girdle bone morphology", "49": "Rickets"}