学因网基因：BRAF；
与BRAF基因相关的CHPO中文疾病症状表型：短指畸形综合征,肘外翻,下斜睑裂,淋巴水肿,高腭,常染色体显性遗传,性腺功能减退症,肿瘤,异常出血,后发际低,囊状水瘤,颈蹼,腭高而窄,盾状胸,牙齿错位咬合,高位鸡胸,异质性的,室间隔缺损,三角脸,指（趾）内弯,小下颌畸形,#####,脊柱侧弯,指桡侧偏斜,感音神经性耳聋,#####,低位后旋转耳,动脉导管未闭,出生后生长迟缓,隐睾,内眦赘皮,肺动脉狭窄,巨核细胞缺乏性血小板减少症,上睑下垂,眼距过宽,男性不育,主动脉缩窄,房间隔缺陷,短颈,肥厚性心肌病,近视,婴儿期生长不旺,滑膜炎,身材矮小,智力残疾,神经纤维肉瘤,脊柱异常,下胸骨漏斗胸；
与BRAF基因相关的HPO英文疾病症状表型：Brachydactyly,Cubitus valgus,Downslanted palpebral fissures,Lymphedema,High palate,Autosomal dominant inheritance,Hypogonadism,Neoplasm,Abnormal bleeding,Low posterior hairline,Cystic hygroma,Webbed neck,High, narrow palate,Shield chest,Dental malocclusion,Superior pectus carinatum,Heterogeneous,Ventricular septal defect,Triangular face,Clinodactyly,Micrognathia,Reduced factor XII activity,Kyphoscoliosis,Radial deviation of finger,Sensorineural hearing impairment,Reduced factor XIII activity,Low-set, posteriorly rotated ears,Patent ductus arteriosus,Postnatal growth retardation,Cryptorchidism,Epicanthus,Pulmonic stenosis,Amegakaryocytic thrombocytopenia,Ptosis,Hypertelorism,Male infertility,Coarctation of aorta,Atrial septal defect,Short neck,Hypertrophic cardiomyopathy,Myopia,Failure to thrive in infancy,Synovitis,Short stature,Intellectual disability,Neurofibrosarcoma,Abnormality of the vertebral column,Pectus excavatum of inferior sternum；
HPO相关编号:HP:0001156,HP:0002967,HP:0000494,HP:0001004,HP:0000218,HP:0000006,HP:0000135,HP:0002664,HP:0001892,HP:0002162,HP:0000476,HP:0000465,HP:0002705,HP:0000914,HP:0000689,HP:0000917,HP:0001425,HP:0001629,HP:0000325,HP:0030084,HP:0000347,HP:0004841,HP:0002751,HP:0009466,HP:0000407,HP:0008357,HP:0000368,HP:0001643,HP:0008897,HP:0000028,HP:0000286,HP:0001642,HP:0004859,HP:0000508,HP:0000316,HP:0003251,HP:0001680,HP:0001631,HP:0000470,HP:0001639,HP:0000545,HP:0001531,HP:0100769,HP:0004322,HP:0001249,HP:0100697,HP:0000925,HP:0000915；
相关病症数据库编号：OMIM:163950；
相关病症中文名：Noonan综合征1型；
相关病症英文名：NOONAN SYNDROME 1; NS1；
*遗传方式：AD；
* 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：短指畸形综合征,肘外翻,下斜睑裂,淋巴水肿,高腭,常染色体显性遗传,性腺功能减退症,肿瘤,异常出血,后发际低,囊状水瘤,颈蹼,腭高而窄,盾状胸,牙齿错位咬合,高位鸡胸,异质性的,室间隔缺损,三角脸,指（趾）内弯,小下颌畸形,#####,脊柱侧弯,指桡侧偏斜,感音神经性耳聋,#####,低位后旋转耳,动脉导管未闭,出生后生长迟缓,隐睾,内眦赘皮,肺动脉狭窄,巨核细胞缺乏性血小板减少症,上睑下垂,眼距过宽,男性不育,主动脉缩窄,房间隔缺陷,短颈,肥厚性心肌病,近视,婴儿期生长不旺,滑膜炎,身材矮小,智力残疾,神经纤维肉瘤,脊柱异常,下胸骨漏斗胸。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Noonan综合征1型进行致病基因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。
