学因网基因：BMP4；
与BMP4基因相关的CHPO中文疾病症状表型：严重的肌张力减退,小角膜,隐睾,脚趾并趾畸形,肾发育不良,常染色体显性遗传,单独掌横纹,小下颌畸形,人字缝早闭,后旋耳,耳垂方向异常,近视,小舌畸形,手并指,小阴茎,大脑皮层萎缩,女性性腺功能减退症,胼胝体发育缺陷/发育不全,不能生长发育,小蝶鞍,视网膜营养不良,面部不对称,中枢神经系统的髓鞘化延迟,小手指屈指畸形,短指畸形综合征,巨耳畸形,肌张力减退,失语,失明,眼球缺损,下蚓部发育不全,低位耳,额头高,高腭,全面发育迟缓,小眼畸形,垂体前叶功能减退症,小脑发育不全,下颌后缩,手指短中节指骨,双歧悬雍垂,眼眶囊肿,视束的发育缺陷,巨脑室,面中部后缩,颈椎异常,招风耳,角膜巩膜化,尿道下裂,小头畸形,斜头畸形,短头畸形,阴囊对裂,肾上腺发育不良,扁平颧突,甲状腺功能减退症,腭裂,精神运动发育迟缓,拇指屈曲挛缩,轴前多指急性,小阴囊,无眼畸形,眼球震颤,听力障碍；
与BMP4基因相关的HPO英文疾病症状表型：Severe muscular hypotonia,Microcornea,Cryptorchidism,Toe syndactyly,Renal hypoplasia,Autosomal dominant inheritance,Single transverse palmar crease,Micrognathia,Lambdoidal craniosynostosis,Posteriorly rotated ears,Uplifted earlobe,Myopia,Microglossia,Finger syndactyly,Micropenis,Cerebral cortical atrophy,Female hypogonadism,Aplasia/Hypoplasia of the corpus callosum,Failure to thrive,Small sella turcica,Retinal dystrophy,Facial asymmetry,Delayed CNS myelination,Clinodactyly of the 5th finger,Brachydactyly,Macrotia,Muscular hypotonia,Absent speech,Blindness,Coloboma,Inferior vermis hypoplasia,Low-set ears,High forehead,High palate,Global developmental delay,Microphthalmia,Anterior hypopituitarism,Cerebellar hypoplasia,Retrognathia,Short middle phalanx of finger,Bifid uvula,Orbital cyst,Aplasia of the optic tract,Ventriculomegaly,Midface retrusion,Abnormality of the cervical spine,Protruding ear,Sclerocornea,Hypospadias,Microcephaly,Plagiocephaly,Brachycephaly,Bifid scrotum,Adrenal hypoplasia,Malar flattening,Hypothyroidism,Cleft palate,Psychomotor retardation,Flexion contracture of thumb,Preaxial hand polydactyly,Small scrotum,Anophthalmia,Nystagmus,Hearing impairment；
HPO相关编号:HP:0006829,HP:0000482,HP:0000028,HP:0001770,HP:0000089,HP:0000006,HP:0000954,HP:0000347,HP:0004443,HP:0000358,HP:0009909,HP:0000545,HP:0000171,HP:0006101,HP:0000054,HP:0002120,HP:0000134,HP:0007370,HP:0001508,HP:0010538,HP:0000556,HP:0000324,HP:0002188,HP:0004209,HP:0001156,HP:0000400,HP:0001252,HP:0001344,HP:0000618,HP:0000589,HP:0007068,HP:0000369,HP:0000348,HP:0000218,HP:0001263,HP:0000568,HP:0000830,HP:0001321,HP:0000278,HP:0005819,HP:0000193,HP:0001144,HP:0010999,HP:0002119,HP:0011800,HP:0003319,HP:0000411,HP:0000647,HP:0000047,HP:0000252,HP:0001357,HP:0000248,HP:0000048,HP:0000835,HP:0000272,HP:0000821,HP:0000175,HP:0025356,HP:0009600,HP:0001177,HP:0030276,HP:0000528,HP:0000639,HP:0000365；
相关病症数据库编号：OMIM:607932；
相关病症中文名：小眼畸形综合征6型；
相关病症英文名：MICROPHTHALMIA, SYNDROMIC 6; MCOPS6；
*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BMP4往往会有以下的表型：严重的肌张力减退,小角膜,隐睾,脚趾并趾畸形,肾发育不良,常染色体显性遗传,单独掌横纹,小下颌畸形,人字缝早闭,后旋耳,耳垂方向异常,近视,小舌畸形,手并指,小阴茎,大脑皮层萎缩,女性性腺功能减退症,胼胝体发育缺陷/发育不全,不能生长发育,小蝶鞍,视网膜营养不良,面部不对称,中枢神经系统的髓鞘化延迟,小手指屈指畸形,短指畸形综合征,巨耳畸形,肌张力减退,失语,失明,眼球缺损,下蚓部发育不全,低位耳,额头高,高腭,全面发育迟缓,小眼畸形,垂体前叶功能减退症,小脑发育不全,下颌后缩,手指短中节指骨,双歧悬雍垂,眼眶囊肿,视束的发育缺陷,巨脑室,面中部后缩,颈椎异常,招风耳,角膜巩膜化,尿道下裂,小头畸形,斜头畸形,短头畸形,阴囊对裂,肾上腺发育不良,扁平颧突,甲状腺功能减退症,腭裂,精神运动发育迟缓,拇指屈曲挛缩,轴前多指急性,小阴囊,无眼畸形,眼球震颤,听力障碍。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小眼畸形综合征6型进行致病基因BMP4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。
