学因网基因：RERE；
与RERE基因相关的CHPO中文疾病症状表型：感音神经性耳聋,痉挛性四肢瘫,三角脸,身材矮小,隐睾,鼻孔前翻,肌张力减退,胼胝体发育不良,沟裂舌,多发性咖啡斑,小头畸形,睡眠呼吸暂停,眼距过窄,内眦赘皮,全身性肌张力减低,下斜睑裂,宽眉,前连合发育不全,并指（趾）畸形,肾囊肿,人中扁平,环状胰,乳头内陷,蒜头鼻,微甲,尿道下裂,高身材,常染色体显性遗传,高腭,巨头畸形,眼球缺损,脊柱侧弯,婴儿期发病,视神经萎缩,动脉导管未闭,Peters 综合征,前额突出,注意力缺陷多动障碍,睑裂上斜,小手指屈指畸形,耳廓异常,宽牙槽嵴,卵圆孔未闭,美人尖,自闭症行为,髋关节发育不良,小眼畸形,癫痫发作,后旋耳,眼睛深陷,巨脑室,鼻后孔闭锁,胎儿宫内发育迟缓,脑桥发育不良,斜视,十二指肠闭锁,膀胱输尿管返流,中枢神经系统的髓鞘化延迟,全面发育迟缓,小下颌畸形,喂养困难,室间隔缺损,小脑蚓部发育不全,胃食管反流,眼睑裂狭小,构音障碍,低位耳,唇裂,眼距过宽,腰椎前凸过度；
与RERE基因相关的HPO英文疾病症状表型：Sensorineural hearing impairment,Spastic tetraparesis,Triangular face,Short stature,Cryptorchidism,Anteverted nares,Muscular hypotonia,Hypoplasia of the corpus callosum,Furrowed tongue,Multiple cafe-au-lait spots,Microcephaly,Sleep apnea,Hypotelorism,Epicanthus,Generalized hypotonia,Downslanted palpebral fissures,Broad eyebrow,Hypoplastic anterior commissure,Syndactyly,Renal cyst,Smooth philtrum,Annular pancreas,Inverted nipples,Bulbous nose,Small nail,Hypospadias,Tall stature,Autosomal dominant inheritance,High palate,Macrocephaly,Coloboma,Scoliosis,Infantile onset,Optic atrophy,Patent ductus arteriosus,Peters anomaly,Frontal bossing,Attention deficit hyperactivity disorder,Upslanted palpebral fissure,Clinodactyly of the 5th finger,Abnormality of the pinna,Broad alveolar ridges,Patent foramen ovale,Widow’s peak,Autistic behavior,Hip dysplasia,Microphthalmia,Seizures,Posteriorly rotated ears,Deeply set eye,Ventriculomegaly,Choanal atresia,Intrauterine growth retardation,Hypoplasia of the pons,Strabismus,Duodenal atresia,Vesicoureteral reflux,Delayed CNS myelination,Global developmental delay,Micrognathia,Feeding difficulties,Ventricular septal defect,Cerebellar vermis hypoplasia,Gastroesophageal reflux,Blepharophimosis,Dysarthria,Low-set ears,Cleft lip,Hypertelorism,Lumbar hyperlordosis；
HPO相关编号:HP:0000407,HP:0001285,HP:0000325,HP:0004322,HP:0000028,HP:0000463,HP:0001252,HP:0002079,HP:0000221,HP:0007565,HP:0000252,HP:0010535,HP:0000601,HP:0000286,HP:0001290,HP:0000494,HP:0011229,HP:0030303,HP:0001159,HP:0000107,HP:0000319,HP:0001734,HP:0003186,HP:0000414,HP:0001792,HP:0000047,HP:0000098,HP:0000006,HP:0000218,HP:0000256,HP:0000589,HP:0002650,HP:0003593,HP:0000648,HP:0001643,HP:0000659,HP:0002007,HP:0007018,HP:0000582,HP:0004209,HP:0000377,HP:0000187,HP:0001655,HP:0000349,HP:0000729,HP:0001385,HP:0000568,HP:0001250,HP:0000358,HP:0000490,HP:0002119,HP:0000453,HP:0001511,HP:0012110,HP:0000486,HP:0002247,HP:0000076,HP:0002188,HP:0001263,HP:0000347,HP:0011968,HP:0001629,HP:0001320,HP:0002020,HP:0000581,HP:0001260,HP:0000369,HP:0410030,HP:0000316,HP:0002938；
相关病症数据库编号：OMIM:616975；
相关病症中文名：神经发育障碍，伴或不伴眼、脑、心脏异常；
相关病症英文名：NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH；
*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RERE往往会有以下的表型：感音神经性耳聋,痉挛性四肢瘫,三角脸,身材矮小,隐睾,鼻孔前翻,肌张力减退,胼胝体发育不良,沟裂舌,多发性咖啡斑,小头畸形,睡眠呼吸暂停,眼距过窄,内眦赘皮,全身性肌张力减低,下斜睑裂,宽眉,前连合发育不全,并指（趾）畸形,肾囊肿,人中扁平,环状胰,乳头内陷,蒜头鼻,微甲,尿道下裂,高身材,常染色体显性遗传,高腭,巨头畸形,眼球缺损,脊柱侧弯,婴儿期发病,视神经萎缩,动脉导管未闭,Peters 综合征,前额突出,注意力缺陷多动障碍,睑裂上斜,小手指屈指畸形,耳廓异常,宽牙槽嵴,卵圆孔未闭,美人尖,自闭症行为,髋关节发育不良,小眼畸形,癫痫发作,后旋耳,眼睛深陷,巨脑室,鼻后孔闭锁,胎儿宫内发育迟缓,脑桥发育不良,斜视,十二指肠闭锁,膀胱输尿管返流,中枢神经系统的髓鞘化延迟,全面发育迟缓,小下颌畸形,喂养困难,室间隔缺损,小脑蚓部发育不全,胃食管反流,眼睑裂狭小,构音障碍,低位耳,唇裂,眼距过宽,腰椎前凸过度。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神经发育障碍，伴或不伴眼、脑、心脏异常进行致病基因RERE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。
