学因网基因：ATP6V1B2；
与ATP6V1B2基因相关的CHPO中文疾病症状表型：关节过度活动,指甲缺损,癫痫发作,宽嘴,短颈,下斜睑裂,腭裂,双歧悬雍垂,内眦距过宽,跖部深褶,拇趾外翻,高弓足,高腭,外生殖器异常,巨舌症,宽鼻,智力残疾,白内障,小下颌畸形,指甲发育不良,小管过密性长骨,长睫毛,泛发性色素沉着,掌褶纹深,皮肤柔软,前牙开咬错位咬合畸形,心血管系统形态异常,面部多毛症（先天性）,蒜头鼻,大肉耳,牙齿数量增加,脾肿大,生长延迟,眼距过宽,扁平足,缺牙症,眉毛浓密,大耳,肝脏肿大,泛发性多毛症,小儿肌张力减退,牙龈纤维瘤病,感音神经性耳聋；
与ATP6V1B2基因相关的HPO英文疾病症状表型：Joint hypermobility,Absent fingernail,Seizures,Wide mouth,Short neck,Downslanted palpebral fissures,Cleft palate,Bifid uvula,Telecanthus,Deep plantar creases,Hallux valgus,Pes cavus,High palate,Abnormal external genitalia,Macroglossia,Wide nose,Intellectual disability,Cataract,Micrognathia,Hypoplastic fingernail,Overtubulated long bones,Long eyelashes,Generalized hyperpigmentation,Deep palmar crease,Soft skin,Anterior open-bite malocclusion,Abnormality of cardiovascular system morphology,Facial hypertrichosis,Bulbous nose,Large fleshy ears,Increased number of teeth,Splenomegaly,Growth delay,Hypertelorism,Pes planus,Hypodontia,Thick eyebrow,Thickened ears,Hepatomegaly,Generalized hypertrichosis,Infantile muscular hypotonia,Gingival fibromatosis,Sensorineural hearing impairment；
HPO相关编号:HP:0001382,HP:0001817,HP:0001250,HP:0000154,HP:0000470,HP:0000494,HP:0000175,HP:0000193,HP:0000506,HP:0001869,HP:0001822,HP:0001761,HP:0000218,HP:0000811,HP:0000158,HP:0000445,HP:0001249,HP:0000518,HP:0000347,HP:0001804,HP:0006391,HP:0000527,HP:0007440,HP:0006191,HP:0000977,HP:0009102,HP:0030680,HP:0002219,HP:0000414,HP:0002265,HP:0011069,HP:0001744,HP:0001510,HP:0000316,HP:0001763,HP:0000668,HP:0000574,HP:0009894,HP:0002240,HP:0004554,HP:0008947,HP:0000169,HP:0000407；
相关病症数据库编号：ORPHA:3473；
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ATP6V1B2往往会有以下的表型：关节过度活动,指甲缺损,癫痫发作,宽嘴,短颈,下斜睑裂,腭裂,双歧悬雍垂,内眦距过宽,跖部深褶,拇趾外翻,高弓足,高腭,外生殖器异常,巨舌症,宽鼻,智力残疾,白内障,小下颌畸形,指甲发育不良,小管过密性长骨,长睫毛,泛发性色素沉着,掌褶纹深,皮肤柔软,前牙开咬错位咬合畸形,心血管系统形态异常,面部多毛症（先天性）,蒜头鼻,大肉耳,牙齿数量增加,脾肿大,生长延迟,眼距过宽,扁平足,缺牙症,眉毛浓密,大耳,肝脏肿大,泛发性多毛症,小儿肌张力减退,牙龈纤维瘤病,感音神经性耳聋。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ATP6V1B2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。
