学因网基因：CHRNG；
与CHRNG基因相关的CHPO中文疾病症状表型：脊柱侧弯,下斜睑裂,长人中,后发际低,上睑下垂,阴茎发育不良,新生儿呼吸窘迫,腹壁肌群未发育/发育不全,肺发育不良,漏斗胸,斜视,小头畸形,椎体分节缺陷,关节活动受限,肘前翼状胬肉,腘翼状胬肉,隐睾,肋骨融合,手指的指关节粘连,长头畸形,主动脉瓣异常,身材矮小,传导性听力障碍,不能生长发育,舌异常,内眦距过宽,腭裂,认知障碍,色素痣,阴囊发育不良,脐疝,小下颌畸形,长脸,性腺功能减退症,皮肤发育缺陷/不全,主动脉瘤,腹股沟疝,手并指,面部不对称,胃肠道形态异常,隐性脊柱裂,高腭,肌萎缩,手指弯曲,步态不稳,内眦赘皮,尖下巴,颈蹼,腋窝翼状胬肉,大阴唇缺如,多发翼状胬肉,足部异常,先天性多发性关节挛缩,胎儿宫内发育迟缓,低位耳,眼距过宽；
与CHRNG基因相关的HPO英文疾病症状表型：Scoliosis,Downslanted palpebral fissures,Long philtrum,Low posterior hairline,Ptosis,Hypoplasia of penis,Neonatal respiratory distress,Aplasia/Hypoplasia of the abdominal wall musculature,Pulmonary hypoplasia,Pectus excavatum,Strabismus,Microcephaly,Vertebral segmentation defect,Limitation of joint mobility,Antecubital pterygium,Popliteal pterygium,Cryptorchidism,Rib fusion,Symphalangism affecting the phalanges of the hand,Dolichocephaly,Abnormal aortic valve morphology,Short stature,Conductive hearing impairment,Failure to thrive,Abnormality of the tongue,Telecanthus,Cleft palate,Cognitive impairment,Nevus,Scrotal hypoplasia,Umbilical hernia,Micrognathia,Long face,Hypogonadism,Aplasia/Hypoplasia of the skin,Aortic aneurysm,Inguinal hernia,Finger syndactyly,Facial asymmetry,Morphological abnormality of the gastrointestinal tract,Spina bifida occulta,High palate,Skeletal muscle atrophy,Camptodactyly of finger,Gait disturbance,Epicanthus,Pointed chin,Webbed neck,Axillary pterygium,Absence of labia majora,Multiple pterygia,Abnormality of the foot,Arthrogryposis multiplex congenita,Intrauterine growth retardation,Low-set ears,Hypertelorism；
HPO相关编号:HP:0002650,HP:0000494,HP:0000343,HP:0002162,HP:0000508,HP:0008736,HP:0002643,HP:0010318,HP:0002089,HP:0000767,HP:0000486,HP:0000252,HP:0003422,HP:0001376,HP:0009760,HP:0009756,HP:0000028,HP:0000902,HP:0009773,HP:0000268,HP:0001646,HP:0004322,HP:0000405,HP:0001508,HP:0000157,HP:0000506,HP:0000175,HP:0100543,HP:0003764,HP:0000046,HP:0001537,HP:0000347,HP:0000276,HP:0000135,HP:0008065,HP:0004942,HP:0000023,HP:0006101,HP:0000324,HP:0012718,HP:0003298,HP:0000218,HP:0003202,HP:0100490,HP:0001288,HP:0000286,HP:0000307,HP:0000465,HP:0001060,HP:0008729,HP:0001040,HP:0001760,HP:0002804,HP:0001511,HP:0000369,HP:0000316；
相关病症数据库编号：ORPHA:2990；
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CHRNG往往会有以下的表型：脊柱侧弯,下斜睑裂,长人中,后发际低,上睑下垂,阴茎发育不良,新生儿呼吸窘迫,腹壁肌群未发育/发育不全,肺发育不良,漏斗胸,斜视,小头畸形,椎体分节缺陷,关节活动受限,肘前翼状胬肉,腘翼状胬肉,隐睾,肋骨融合,手指的指关节粘连,长头畸形,主动脉瓣异常,身材矮小,传导性听力障碍,不能生长发育,舌异常,内眦距过宽,腭裂,认知障碍,色素痣,阴囊发育不良,脐疝,小下颌畸形,长脸,性腺功能减退症,皮肤发育缺陷/不全,主动脉瘤,腹股沟疝,手并指,面部不对称,胃肠道形态异常,隐性脊柱裂,高腭,肌萎缩,手指弯曲,步态不稳,内眦赘皮,尖下巴,颈蹼,腋窝翼状胬肉,大阴唇缺如,多发翼状胬肉,足部异常,先天性多发性关节挛缩,胎儿宫内发育迟缓,低位耳,眼距过宽。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CHRNG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。
