学因网基因：ATRX；
与ATRX基因相关的CHPO中文疾病症状表型：恶心和呕吐,贫血,严重的全脑发育迟缓,内眦距过宽,鼻嵴凹陷,巨舌症,复发性尿路感染,面中部后缩,视神经萎缩,肾积水,下唇唇红外翻,孤独症,外阴性别不明,婴儿期夭折,抑郁,近视,婴儿期喂养困难,大脑皮层萎缩,眼距过宽,脑炎,牙齿异常,囟门异常,U型上唇,隐睾,便秘,失明,屈曲挛缩,内眦赘皮,阴茎发育不良,胃食管反流,智力残疾,痉挛性截瘫,胼胝体发育不全,短指畸形综合征,肠扭转,语言障碍,肌张力减退,无神经节性巨结肠,感音神经性耳聋,马蹄内翻足,血红蛋白异常,帐篷状上唇,关节僵硬,男性假两性畸形,运动异常,厚下唇,小手指屈指畸形,身材矮小,小头畸形,鼻孔前翻,癫痫发作,扁平脸,自伤行为；
与ATRX基因相关的HPO英文疾病症状表型：Nausea and vomiting,Anemia,Profound global developmental delay,Telecanthus,Depressed nasal ridge,Macroglossia,Recurrent urinary tract infections,Midface retrusion,Optic atrophy,Hydronephrosis,Everted lower lip vermilion,Autism,Ambiguous genitalia,Death in infancy,Depressivity,Myopia,Feeding difficulties in infancy,Cerebral cortical atrophy,Hypertelorism,Encephalitis,Abnormality of the dentition,Abnormality of fontanelles,U-Shaped upper lip vermilion,Cryptorchidism,Constipation,Blindness,Flexion contracture,Epicanthus,Hypoplasia of penis,Gastroesophageal reflux,Intellectual disability,Spastic paraplegia,Agenesis of corpus callosum,Brachydactyly,Volvulus,Dysphasia,Muscular hypotonia,Aganglionic megacolon,Sensorineural hearing impairment,Talipes equinovarus,Abnormal hemoglobin,Tented upper lip vermilion,Joint stiffness,Male pseudohermaphroditism,Abnormality of movement,Thick lower lip vermilion,Clinodactyly of the 5th finger,Short stature,Microcephaly,Anteverted nares,Seizures,Flat face,Self-injurious behavior；
HPO相关编号:HP:0002017,HP:0001903,HP:0012736,HP:0000506,HP:0000457,HP:0000158,HP:0000010,HP:0011800,HP:0000648,HP:0000126,HP:0000232,HP:0000717,HP:0000062,HP:0001522,HP:0000716,HP:0000545,HP:0008872,HP:0002120,HP:0000316,HP:0002383,HP:0000164,HP:0011328,HP:0010806,HP:0000028,HP:0002019,HP:0000618,HP:0001371,HP:0000286,HP:0008736,HP:0002020,HP:0001249,HP:0001258,HP:0001274,HP:0001156,HP:0002580,HP:0002357,HP:0001252,HP:0002251,HP:0000407,HP:0001762,HP:0011902,HP:0010804,HP:0001387,HP:0000037,HP:0100022,HP:0000179,HP:0004209,HP:0004322,HP:0000252,HP:0000463,HP:0001250,HP:0012368,HP:0100716；
相关病症数据库编号：ORPHA:847；
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ATRX往往会有以下的表型：恶心和呕吐,贫血,严重的全脑发育迟缓,内眦距过宽,鼻嵴凹陷,巨舌症,复发性尿路感染,面中部后缩,视神经萎缩,肾积水,下唇唇红外翻,孤独症,外阴性别不明,婴儿期夭折,抑郁,近视,婴儿期喂养困难,大脑皮层萎缩,眼距过宽,脑炎,牙齿异常,囟门异常,U型上唇,隐睾,便秘,失明,屈曲挛缩,内眦赘皮,阴茎发育不良,胃食管反流,智力残疾,痉挛性截瘫,胼胝体发育不全,短指畸形综合征,肠扭转,语言障碍,肌张力减退,无神经节性巨结肠,感音神经性耳聋,马蹄内翻足,血红蛋白异常,帐篷状上唇,关节僵硬,男性假两性畸形,运动异常,厚下唇,小手指屈指畸形,身材矮小,小头畸形,鼻孔前翻,癫痫发作,扁平脸,自伤行为。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ATRX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。
