学因网基因：BCR；
与BCR基因相关的CHPO中文疾病症状表型：鼻翼发育不全,脚趾并趾畸形,主动脉瘤,复发性尿路感染,趾甲缺损,面部不对称,癫痫发作,小头畸形,腭裂,免疫缺陷,细长指(趾),鳃裂瘘管,动脉干,关节过度屈曲,人中扁平,智力残疾,感音神经性耳聋,主动脉瓣反流,腭高而窄,手指尺侧偏斜,尖下巴,耳垂异常,鼻后孔闭锁,腹股沟疝,肿瘤,抽动症,鼻梁突出,室间隔缺损,高拱形眉毛,长骨弯曲,脊柱前凸过度,髋外翻,注意力缺陷多动障碍,早产,扁平颧突,动眼运动异常,指甲缺损,大便失禁,全面发育迟缓,手指短末节指骨,身材矮小,趾间畸形,幽门狭窄,扁平足,嘴巴狭窄,房间隔缺陷,反复呼吸道感染,薄上唇红,强迫行为,小手指屈指畸形,抑郁,眼睑裂狭小,长脸,短掌,手指弯曲,眼睛深陷,语言障碍,胎儿宫内发育迟缓,舌系带短缩；
与BCR基因相关的HPO英文疾病症状表型：Underdeveloped nasal alae,Toe syndactyly,Aortic aneurysm,Recurrent urinary tract infections,Absent toenail,Facial asymmetry,Seizures,Microcephaly,Cleft palate,Immunodeficiency,Arachnodactyly,Branchial fistula,Truncus arteriosus,Joint hyperflexibility,Smooth philtrum,Intellectual disability,Sensorineural hearing impairment,Aortic regurgitation,High, narrow palate,Ulnar deviation of finger,Pointed chin,Abnormality of earlobe,Choanal atresia,Inguinal hernia,Neoplasm,Tics,Prominent nasal bridge,Ventricular septal defect,Highly arched eyebrow,Bowing of the long bones,Hyperlordosis,Coxa valga,Attention deficit hyperactivity disorder,Premature birth,Malar flattening,Oculomotor apraxia,Absent fingernail,Bowel incontinence,Global developmental delay,Short distal phalanx of finger,Short stature,Sandal gap,Pyloric stenosis,Pes planus,Narrow mouth,Atrial septal defect,Recurrent respiratory infections,Thin upper lip vermilion,Obsessive-compulsive behavior,Clinodactyly of the 5th finger,Depressivity,Blepharophimosis,Long face,Short palm,Camptodactyly of finger,Deeply set eye,Language impairment,Intrauterine growth retardation,Ankyloglossia；
HPO相关编号:HP:0000430,HP:0001770,HP:0004942,HP:0000010,HP:0001802,HP:0000324,HP:0001250,HP:0000252,HP:0000175,HP:0002721,HP:0001166,HP:0009795,HP:0001660,HP:0005692,HP:0000319,HP:0001249,HP:0000407,HP:0001659,HP:0002705,HP:0009465,HP:0000307,HP:0000363,HP:0000453,HP:0000023,HP:0002664,HP:0100033,HP:0000426,HP:0001629,HP:0002553,HP:0006487,HP:0003307,HP:0002673,HP:0007018,HP:0001622,HP:0000272,HP:0000657,HP:0001817,HP:0002607,HP:0001263,HP:0009882,HP:0004322,HP:0001852,HP:0002021,HP:0001763,HP:0000160,HP:0001631,HP:0002205,HP:0000219,HP:0000722,HP:0004209,HP:0000716,HP:0000581,HP:0000276,HP:0004279,HP:0100490,HP:0000490,HP:0002463,HP:0001511,HP:0010296；
相关病症数据库编号：ORPHA:261330；
相关病症中文名：；
相关病症英文名：；
*遗传方式：；
* 遗传方式介绍：AD：常染色体显性遗传；AR：常染色体隐性遗传；XLD：X-连锁显性遗传；XLR：X-连锁隐性遗传；DD：双基因显性遗传；DR：双基因隐性遗传；Mi：线粒体遗传。
已知的研究表明：该种基因BCR往往会有以下的表型：鼻翼发育不全,脚趾并趾畸形,主动脉瘤,复发性尿路感染,趾甲缺损,面部不对称,癫痫发作,小头畸形,腭裂,免疫缺陷,细长指(趾),鳃裂瘘管,动脉干,关节过度屈曲,人中扁平,智力残疾,感音神经性耳聋,主动脉瓣反流,腭高而窄,手指尺侧偏斜,尖下巴,耳垂异常,鼻后孔闭锁,腹股沟疝,肿瘤,抽动症,鼻梁突出,室间隔缺损,高拱形眉毛,长骨弯曲,脊柱前凸过度,髋外翻,注意力缺陷多动障碍,早产,扁平颧突,动眼运动异常,指甲缺损,大便失禁,全面发育迟缓,手指短末节指骨,身材矮小,趾间畸形,幽门狭窄,扁平足,嘴巴狭窄,房间隔缺陷,反复呼吸道感染,薄上唇红,强迫行为,小手指屈指畸形,抑郁,眼睑裂狭小,长脸,短掌,手指弯曲,眼睛深陷,语言障碍,胎儿宫内发育迟缓,舌系带短缩。以往此类疾病多以临床表型、生化检测、神经影像学检测等手段进行诊断，程序繁琐复杂，且不能从根本的致病原因上做出明确诊断。随着人类基因组计划的完成和高通量测序技术的普遍应用，利用最先进的基因检测技术，我们已可以从基因水平对该进行致病基因BCR的基因检测，知道了携带的致病基因，才能加强辅助临床随诊，让医生的诊治更准确。
