基因:CHD3;
与CHD3基因相关的CHPO中文疾病症状表型:脊柱侧弯,构音障碍,皮质视觉障碍,宽基步态,宽鼻梁,散光,足部异常,牙齿异常,巨头畸形,失读症,前额突出,巨脑室,斜视,全身性肌张力减低,全面发育迟缓,鼻子突出,面中部后缩,常染色体显性遗传,远视,低位耳,语言发育迟缓,内眦赘皮,腭高而窄,眼距过宽,步态不稳,口吃,婴儿期发病,刻板行为,前额突出;
与CHD3基因相关的HPO英文疾病症状表型:Scoliosis,Dysarthria,Cerebral visual impairment,Broad-based gait,Wide nasal bridge,Astigmatism,Abnormality of the foot,Abnormality of the dentition,Macrocephaly,Speech apraxia,Frontal bossing,Ventriculomegaly,Strabismus,Generalized hypotonia,Global developmental delay,Prominent nose,Midface retrusion,Autosomal dominant inheritance,Hypermetropia,Low-set ears,Delayed speech and language development,Epicanthus,High, narrow palate,Hypertelorism,Unsteady gait,Stuttering,Infantile onset,Stereotypy,Prominent forehead;
HPO相关编号:HP:0002650,HP:0001260,HP:0100704,HP:0002136,HP:0000431,HP:0000483,HP:0001760,HP:0000164,HP:0000256,HP:0011098,HP:0002007,HP:0002119,HP:0000486,HP:0001290,HP:0001263,HP:0000448,HP:0011800,HP:0000006,HP:0000540,HP:0000369,HP:0000750,HP:0000286,HP:0002705,HP:0000316,HP:0002317,HP:0025268,HP:0003593,HP:0000733,HP:0011220;
相关病症数据库编号:OMIM:618205;
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CHD3往往会有以下的表型:脊柱侧弯,构音障碍,皮质视觉障碍,宽基步态,宽鼻梁,散光,足部异常,牙齿异常,巨头畸形,失读症,前额突出,巨脑室,斜视,全身性肌张力减低,全面发育迟缓,鼻子突出,面中部后缩,常染色体显性遗传,远视,低位耳,语言发育迟缓,内眦赘皮,腭高而窄,眼距过宽,步态不稳,口吃,婴儿期发病,刻板行为,前额突出。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CHD3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。