学因网基因：BRAF；
与BRAF基因相关的CHPO中文疾病症状表型：黑素细胞痣,下斜睑裂,肺动脉狭窄,颈蹼,漏斗胸,面中部后缩,眼球突出,厚下唇,皮纹异常,脾脏异常,眼球震颤,凝血异常,婴儿期喂养困难,额头高,肝脏肿大,上睑下垂,尺桡骨性融合,高腭,半规管不发育,脊柱侧弯,淋巴水肿,感音神经性耳聋,毛发粗糙,乳头间距宽,腹壁肌群未发育/发育不全,耳轮增厚,隐睾,胸廓扩张,后发际低,囊状水瘤,肌张力减退,小下颌畸形,鸡胸,小手指屈指畸形,短指畸形综合征,异常出血,肌无力,低促性腺激素性性腺功能减退症,心律失常,低位后旋转耳,关节过度屈曲,眼距过宽,肺动脉瓣异常,骨成熟延迟,颈部皮肤皱褶冗赘,三角脸,身材矮小,血小板功能异常,毛发数量异常,斜视,构音障碍；
与BRAF基因相关的HPO英文疾病症状表型：Melanocytic nevus,Downslanted palpebral fissures,Pulmonary artery stenosis,Webbed neck,Pectus excavatum,Midface retrusion,Proptosis,Thick lower lip vermilion,Abnormal dermatoglyphics,Abnormality of the spleen,Nystagmus,Abnormality of coagulation,Feeding difficulties in infancy,High forehead,Hepatomegaly,Ptosis,Radioulnar synostosis,High palate,Aplasia of the semicircular canal,Scoliosis,Lymphedema,Sensorineural hearing impairment,Coarse hair,Wide intermamillary distance,Aplasia/Hypoplasia of the abdominal wall musculature,Thickened helices,Cryptorchidism,Enlarged thorax,Low posterior hairline,Cystic hygroma,Muscular hypotonia,Micrognathia,Pectus carinatum,Clinodactyly of the 5th finger,Brachydactyly,Abnormal bleeding,Muscle weakness,Hypogonadotrophic hypogonadism,Arrhythmia,Low-set, posteriorly rotated ears,Joint hyperflexibility,Hypertelorism,Abnormal pulmonary valve morphology,Delayed skeletal maturation,Thickened nuchal skin fold,Triangular face,Short stature,Abnormal platelet function,Abnormal hair quantity,Strabismus,Dysarthria；
HPO相关编号:HP:0000995,HP:0000494,HP:0004415,HP:0000465,HP:0000767,HP:0011800,HP:0000520,HP:0000179,HP:0007477,HP:0001743,HP:0000639,HP:0001928,HP:0008872,HP:0000348,HP:0002240,HP:0000508,HP:0002974,HP:0000218,HP:0011381,HP:0002650,HP:0001004,HP:0000407,HP:0002208,HP:0006610,HP:0010318,HP:0000391,HP:0000028,HP:0100625,HP:0002162,HP:0000476,HP:0001252,HP:0000347,HP:0000768,HP:0004209,HP:0001156,HP:0001892,HP:0001324,HP:0000044,HP:0011675,HP:0000368,HP:0005692,HP:0000316,HP:0001641,HP:0002750,HP:0000474,HP:0000325,HP:0004322,HP:0011869,HP:0011362,HP:0000486,HP:0001260；
相关病症数据库编号：ORPHA:648；
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BRAF往往会有以下的表型：黑素细胞痣,下斜睑裂,肺动脉狭窄,颈蹼,漏斗胸,面中部后缩,眼球突出,厚下唇,皮纹异常,脾脏异常,眼球震颤,凝血异常,婴儿期喂养困难,额头高,肝脏肿大,上睑下垂,尺桡骨性融合,高腭,半规管不发育,脊柱侧弯,淋巴水肿,感音神经性耳聋,毛发粗糙,乳头间距宽,腹壁肌群未发育/发育不全,耳轮增厚,隐睾,胸廓扩张,后发际低,囊状水瘤,肌张力减退,小下颌畸形,鸡胸,小手指屈指畸形,短指畸形综合征,异常出血,肌无力,低促性腺激素性性腺功能减退症,心律失常,低位后旋转耳,关节过度屈曲,眼距过宽,肺动脉瓣异常,骨成熟延迟,颈部皮肤皱褶冗赘,三角脸,身材矮小,血小板功能异常,毛发数量异常,斜视,构音障碍。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BRAF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。
