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中文Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs (FDLAB)
Alias:
Traboulsi Syndrome
Facial Dysmorphism-Lens Dislocation-Anterior Segment Abnormalities-Spontaneous Filtering Blebs Syndrome
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Shawaf-Traboulsi Syndrome
Fdlab
Facial Dysmorphism-Lens Dislocation-Anterior Segment Abnormalities-Nontraumatic Conjunctive Cysts Syndrome
Fdlab Syndrome
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面部畸形、晶状体脱位、前段异常和自发性滤泡，也称为Traboulsi综合症，与孤立性晶状体脱位和 velocardiofacial综合症有关。与面部畸形、晶状体脱位、前段异常和自发性滤泡有关的重要基因是 ASPH (Aspartate Beta-Hydroxylase)。相关组织包括眼睛，相关表型是小眼症和宽鼻。
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