| {"0": "Increased serum lactate", "1": "Positional foot deformity", "2": "Abnormal upper limb bone morphology", "3": "Abnormal lower limb bone morphology", "4": "Aplasia hypoplasia of the extremities", "5": "Disproportionate short limb short stature", "6": "Abnormality of the synovia", "7": "Limitation of joint mobility", "8": "Abnormal bone structure", "9": "Coxa vara", "10": "Limb undergrowth", "11": "Ragged red muscle fibers", "12": "Abnormality of pelvic girdle bone morphology", "13": "Intestinal malrotation", "14": "Talipes equinovarus", "15": "Narrow palpebral fissure", "16": "Gastroesophageal reflux", "17": "Feeding difficulties in infancy", "18": "Abnormality of long bone morphology", "19": "Chest pain", "20": "Abnormality of the forearm", "21": "Abnormal enchondral ossification", "22": "Abnormality of the larynx", "23": "Xerostomia", "24": "Congenital malformation of the great arteries", "25": "Tremor by anatomical site", "26": "Abnormality of the pulmonary vasculature", "27": "Wormian bones", "28": "Joint laxity", "29": "Abnormal morphology of the great vessels", "30": "Flushing", "31": "Amyotrophic lateral sclerosis", "32": "Aplasia hypoplasia involving forearm bones", "33": "Abnormality of salivation", "34": "Recurrent fractures", "35": "Abnormal metatarsal morphology", "36": "Abnormality of the curvature of the vertebral column", "37": "Disproportionate short stature", "38": "Abnormality of periauricular region", "39": "Abnormal fear anxiety related behavior", "40": "Abnormality of the testis size", "41": "Dolichocephaly", "42": "Generalized muscle weakness", "43": "Cryptorchidism", "44": "Patent ductus arteriosus", "45": "Increased serum pyruvate", "46": "Abnormal circulating metabolite concentration", "47": "Kyphosis", "48": "Aplasia hypoplasia involving the pelvis", "49": "Respiratory insufficiency"} |