| {"0": "Abnormal eyelash morphology", "1": "Corneal opacity", "2": "Abnormal penis morphology", "3": "Dermal atrophy", "4": "Sparse eyelashes", "5": "Functional abnormality of the middle ear", "6": "Contractures of the joints of the upper limbs", "7": "Displacement of the urethral meatus", "8": "Sparse or absent eyelashes", "9": "Abnormal conjugate eye movement", "10": "Gastrostomy tube feeding in infancy", "11": "Thin vermilion border", "12": "Lower limb hyperreflexia", "13": "Aplasia hypoplasia of the lungs", "14": "Abnormal cardiac ventricular function", "15": "Abnormality of dental eruption", "16": "Abnormal circulating lipid concentration", "17": "Sclerocornea", "18": "Relative macrocephaly", "19": "Abnormal anterior eye segment morphology", "20": "Abnormal cardiac ventricle morphology", "21": "External genital hypoplasia", "22": "Limb joint contracture", "23": "Thoracic aortic aneurysm", "24": "Convex nasal ridge", "25": "Abnormality of skull ossification", "26": "Abnormal epidermal morphology", "27": "Retrognathia", "28": "Abnormality of the ribs", "29": "Abnormal fingertip morphology", "30": "Agitation", "31": "Dental crowding", "32": "Abnormality of the nasal tip", "33": "Delayed ability to walk", "34": "Irregular hyperpigmentation", "35": "Posteriorly rotated ears", "36": "Cardiac arrest", "37": "Hip dislocation", "38": "Abnormality of the urethra", "39": "Polyhydramnios", "40": "Abnormal eyebrow morphology", "41": "Abnormality of the upper arm", "42": "Low set posteriorly rotated ears", "43": "Tachypnea", "44": "Toe walking", "45": "Aplasia hypoplasia of the skin", "46": "Pulmonary hypoplasia", "47": "Foot dorsiflexor weakness", "48": "Wormian bones", "49": "Lower limb amyotrophy"} |