学因网基因：CDH11；
与CDH11基因相关的CHPO中文疾病症状表型：短指畸形综合征,眼球痨,宽前额,智力残疾,脊柱异常,阴囊对裂,漏斗胸,额头狭窄,多个阻生齿,长人中,厚下唇,双歧悬雍垂,眼距过宽,薄上唇红,常染色体隐性遗传,阴茎阴囊型尿道下裂,低位耳,皮肤性并指畸形,巨角膜,连眉,眉毛浓密,短头畸形,鼻孔前翻,扁平颧突,面部不对称,牙齿错位咬合,白内障,全面发育迟缓,肛门狭窄,宽人中,宽鼻梁,下斜睑裂,面中部后缩,青光眼,上颌骨发育不全,高腭,眼球突出,牙齿萌出延迟,隐睾,乳头间距宽,下颌前突,肛门前置,外斜视,后旋耳,鼻小柱下垂；
与CDH11基因相关的HPO英文疾病症状表型：Brachydactyly,Phthisis bulbi,Broad forehead,Intellectual disability,Abnormality of the vertebral column,Bifid scrotum,Pectus excavatum,Narrow forehead,Multiple impacted teeth,Long philtrum,Thick lower lip vermilion,Bifid uvula,Hypertelorism,Thin upper lip vermilion,Autosomal recessive inheritance,Penoscrotal hypospadias,Low-set ears,Cutaneous syndactyly,Megalocornea,Synophrys,Thick eyebrow,Brachycephaly,Anteverted nares,Malar flattening,Facial asymmetry,Dental malocclusion,Cataract,Global developmental delay,Anal stenosis,Broad philtrum,Wide nasal bridge,Downslanted palpebral fissures,Midface retrusion,Glaucoma,Hypoplasia of the maxilla,High palate,Proptosis,Delayed eruption of teeth,Cryptorchidism,Wide intermamillary distance,Mandibular prognathia,Anteriorly placed anus,Exodeviation,Posteriorly rotated ears,Low hanging columella；
HPO相关编号:HP:0001156,HP:0000667,HP:0000337,HP:0001249,HP:0000925,HP:0000048,HP:0000767,HP:0000341,HP:0001571,HP:0000343,HP:0000179,HP:0000193,HP:0000316,HP:0000219,HP:0000007,HP:0000808,HP:0000369,HP:0012725,HP:0000485,HP:0000664,HP:0000574,HP:0000248,HP:0000463,HP:0000272,HP:0000324,HP:0000689,HP:0000518,HP:0001263,HP:0002025,HP:0000289,HP:0000431,HP:0000494,HP:0011800,HP:0000501,HP:0000327,HP:0000218,HP:0000520,HP:0000684,HP:0000028,HP:0006610,HP:0000303,HP:0001545,HP:0020049,HP:0000358,HP:0009765；
相关病症数据库编号：OMIM:211380；
相关病症中文名：Elsahy-Waters综合征；
相关病症英文名：ELSAHY-WATERS SYNDROME; ESWS；
*遗传方式：AR；
* 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CDH11往往会有以下的表型：短指畸形综合征,眼球痨,宽前额,智力残疾,脊柱异常,阴囊对裂,漏斗胸,额头狭窄,多个阻生齿,长人中,厚下唇,双歧悬雍垂,眼距过宽,薄上唇红,常染色体隐性遗传,阴茎阴囊型尿道下裂,低位耳,皮肤性并指畸形,巨角膜,连眉,眉毛浓密,短头畸形,鼻孔前翻,扁平颧突,面部不对称,牙齿错位咬合,白内障,全面发育迟缓,肛门狭窄,宽人中,宽鼻梁,下斜睑裂,面中部后缩,青光眼,上颌骨发育不全,高腭,眼球突出,牙齿萌出延迟,隐睾,乳头间距宽,下颌前突,肛门前置,外斜视,后旋耳,鼻小柱下垂。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Elsahy-Waters综合征进行致病基因CDH11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。
