| {"0": "Abnormal circulating lipid concentration", "1": "Abnormality of the amniotic fluid", "2": "Decreased muscle mass", "3": "Positional foot deformity", "4": "Limb joint contracture", "5": "Muscle stiffness", "6": "Talipes equinovarus", "7": "Abnormality of the intrinsic pathway", "8": "Abnormal circulating cholesterol concentration", "9": "Contractures of the joints of the upper limbs", "10": "Abnormality of upper limb joint", "11": "Cns demyelination", "12": "Knee flexion contracture", "13": "Abnormal circulating fatty acid concentration", "14": "Abnormal circulating fatty acid anion concentration", "15": "Low set posteriorly rotated ears", "16": "Ectrodactyly", "17": "Elevated hepatic transaminase", "18": "Slender long bone", "19": "Metatarsus adductus", "20": "Ambiguous genitalia", "21": "Episodic vomiting", "22": "Psychomotor deterioration", "23": "Posteriorly rotated ears", "24": "Intellectual disability progressive", "25": "Abnormal lung lobation", "26": "Decreased plasma carnitine", "27": "Cachexia", "28": "Cutaneous photosensitivity", "29": "Duplication involving bones of the feet", "30": "Clonus", "31": "Wormian bones", "32": "Dicarboxylic aciduria", "33": "Abnormal circulating pyruvate family amino acid concentration", "34": "2 3 toe syndactyly", "35": "Hypoplasia of the pons", "36": "Hyperlipidemia", "37": "Abnormal vertebral morphology", "38": "Contractures of the joints of the lower limbs", "39": "Abnormality of the knee", "40": "Prolonged neonatal jaundice", "41": "Abnormality of hepatobiliary system physiology", "42": "Abnormal renal tubule morphology", "43": "Diminished movement", "44": "Recurrent fractures", "45": "Abnormality of earlobe", "46": "Increased serum pyruvate", "47": "Corneal opacity", "48": "Lipid accumulation in hepatocytes", "49": "Clumsiness"} |