学因网基因：BRAF；
与BRAF基因相关的CHPO中文疾病症状表型：面容粗糙,低位后旋转耳,脑积水,眶上脊发育不良,鼻孔前翻,掌跖角化症,斜视,大脑皮层萎缩,鱼鳞病,长人中,赘肉,额头高,泛发性色素沉着,婴儿期生长不旺,后发际低,多发性雀斑样痣,鼻梁凹陷,脑电图异常,颈蹼,智力残疾,脊柱侧弯,肘外翻,视神经萎缩,短鼻,视力异常,胃肠道功能异常,长睑裂,身材矮小,肌张力减退,构音障碍,早产,耳轮增厚,内眦赘皮,肾积水,颧骨发育不全,巨头畸形,肥厚性心肌病,绒毛,毛发稀疏,眼球震颤,皮肤过度伸展,干性皮肤,近视,毛发生长缓慢,心脏瓣膜异常,双侧顶骨部收窄,毛发干枯,黏膜下硬裂腭,海绵状血管瘤,下斜睑裂,前额突出,上睑下垂,长脸,房间隔缺陷,淋巴水肿,多发性咖啡斑,漏斗胸,睫毛稀疏/无睫毛,高腭,短颈,隐睾,膝外翻,全面发育迟缓,眉毛发育不全,指甲营养不良,巨耳畸形,婴儿期喂养困难,掌褶纹深,尺骨异常,皮肤皱褶过多,肺动脉狭窄,眼距过宽,脸颊丰满；
与BRAF基因相关的HPO英文疾病症状表型：Coarse facial features,Low-set, posteriorly rotated ears,Hydrocephalus,Underdeveloped supraorbital ridges,Anteverted nares,Palmoplantar keratoderma,Strabismus,Cerebral cortical atrophy,Ichthyosis,Long philtrum,Redundant skin,High forehead,Generalized hyperpigmentation,Failure to thrive in infancy,Low posterior hairline,Multiple lentigines,Depressed nasal bridge,EEG abnormality,Webbed neck,Intellectual disability,Scoliosis,Cubitus valgus,Optic atrophy,Short nose,Abnormality of vision,Functional abnormality of the gastrointestinal tract,Long palpebral fissure,Short stature,Muscular hypotonia,Dysarthria,Premature birth,Thickened helices,Epicanthus,Hydronephrosis,Hypoplasia of the zygomatic bone,Macrocephaly,Hypertrophic cardiomyopathy,Fine hair,Sparse hair,Nystagmus,Hyperextensible skin,Dry skin,Myopia,Slow-growing hair,Abnormal heart valve morphology,Biparietal narrowing,Brittle hair,Submucous cleft hard palate,Cavernous hemangioma,Downslanted palpebral fissures,Frontal bossing,Ptosis,Long face,Atrial septal defect,Lymphedema,Multiple cafe-au-lait spots,Pectus excavatum,Sparse or absent eyelashes,High palate,Short neck,Cryptorchidism,Genu valgum,Global developmental delay,Aplasia/Hypoplasia of the eyebrow,Dystrophic fingernails,Macrotia,Feeding difficulties in infancy,Deep palmar crease,Abnormality of the ulna,Excessive wrinkled skin,Pulmonic stenosis,Hypertelorism,Full cheeks；
HPO相关编号:HP:0000280,HP:0000368,HP:0000238,HP:0009891,HP:0000463,HP:0000982,HP:0000486,HP:0002120,HP:0008064,HP:0000343,HP:0001582,HP:0000348,HP:0007440,HP:0001531,HP:0002162,HP:0001003,HP:0005280,HP:0002353,HP:0000465,HP:0001249,HP:0002650,HP:0002967,HP:0000648,HP:0003196,HP:0000504,HP:0012719,HP:0000637,HP:0004322,HP:0001252,HP:0001260,HP:0001622,HP:0000391,HP:0000286,HP:0000126,HP:0010669,HP:0000256,HP:0001639,HP:0002213,HP:0008070,HP:0000639,HP:0000974,HP:0000958,HP:0000545,HP:0002217,HP:0001654,HP:0004422,HP:0002299,HP:0000176,HP:0001048,HP:0000494,HP:0002007,HP:0000508,HP:0000276,HP:0001631,HP:0001004,HP:0007565,HP:0000767,HP:0200102,HP:0000218,HP:0000470,HP:0000028,HP:0002857,HP:0001263,HP:0100840,HP:0008391,HP:0000400,HP:0008872,HP:0006191,HP:0002997,HP:0007392,HP:0001642,HP:0000316,HP:0000293；
相关病症数据库编号：ORPHA:1340；
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：面容粗糙,低位后旋转耳,脑积水,眶上脊发育不良,鼻孔前翻,掌跖角化症,斜视,大脑皮层萎缩,鱼鳞病,长人中,赘肉,额头高,泛发性色素沉着,婴儿期生长不旺,后发际低,多发性雀斑样痣,鼻梁凹陷,脑电图异常,颈蹼,智力残疾,脊柱侧弯,肘外翻,视神经萎缩,短鼻,视力异常,胃肠道功能异常,长睑裂,身材矮小,肌张力减退,构音障碍,早产,耳轮增厚,内眦赘皮,肾积水,颧骨发育不全,巨头畸形,肥厚性心肌病,绒毛,毛发稀疏,眼球震颤,皮肤过度伸展,干性皮肤,近视,毛发生长缓慢,心脏瓣膜异常,双侧顶骨部收窄,毛发干枯,黏膜下硬裂腭,海绵状血管瘤,下斜睑裂,前额突出,上睑下垂,长脸,房间隔缺陷,淋巴水肿,多发性咖啡斑,漏斗胸,睫毛稀疏/无睫毛,高腭,短颈,隐睾,膝外翻,全面发育迟缓,眉毛发育不全,指甲营养不良,巨耳畸形,婴儿期喂养困难,掌褶纹深,尺骨异常,皮肤皱褶过多,肺动脉狭窄,眼距过宽,脸颊丰满。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。
