学因网基因：ATP6V1A；
与ATP6V1A基因相关的CHPO中文疾病症状表型：冲动,缺牙症,智力残疾,喂养困难,肌阵挛,癫痫持续状态,下斜睑裂,脑萎缩,额头高,震颤,髓鞘异常,胃食管反流,视网膜变性,孤独症,全身性肌张力减低,视力异常,视神经萎缩,头部控制能力弱,眼球震颤,脑电图，多灶性慢活动,小头畸形,肢体张力亢进,智能衰退,全面发育迟缓,共济失调,步态不稳,行走困难,运动障碍,发育倒退,胎动减少,注意力缺陷多动障碍,上睑下垂,腱反射减弱,语言发育迟缓,胼胝体异常,痉挛,不能生长发育,身材矮小,强直,高度失律,脑病；
与ATP6V1A基因相关的HPO英文疾病症状表型：Impulsivity,Hypodontia,Intellectual disability,Feeding difficulties,Myoclonus,Status epilepticus,Downslanted palpebral fissures,Cerebral atrophy,High forehead,Tremor,Abnormal myelination,Gastroesophageal reflux,Retinal degeneration,Autism,Generalized hypotonia,Abnormality of vision,Optic atrophy,Poor head control,Nystagmus,EEG with multifocal slow activity,Microcephaly,Limb hypertonia,Mental deterioration,Global developmental delay,Ataxia,Unsteady gait,Difficulty walking,Dyskinesia,Developmental regression,Decreased fetal movement,Attention deficit hyperactivity disorder,Ptosis,Hyporeflexia,Delayed speech and language development,Abnormal corpus callosum morphology,Spasticity,Failure to thrive,Short stature,Rigidity,Hypsarrhythmia,Encephalopathy；
HPO相关编号:HP:0100710,HP:0000668,HP:0001249,HP:0011968,HP:0001336,HP:0002133,HP:0000494,HP:0002059,HP:0000348,HP:0001337,HP:0012447,HP:0002020,HP:0000546,HP:0000717,HP:0001290,HP:0000504,HP:0000648,HP:0002421,HP:0000639,HP:0010844,HP:0000252,HP:0002509,HP:0001268,HP:0001263,HP:0001251,HP:0002317,HP:0002355,HP:0100660,HP:0002376,HP:0001558,HP:0007018,HP:0000508,HP:0001265,HP:0000750,HP:0001273,HP:0001257,HP:0001508,HP:0004322,HP:0002063,HP:0002521,HP:0001298；
相关病症数据库编号：ORPHA:442835；
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ATP6V1A往往会有以下的表型：冲动,缺牙症,智力残疾,喂养困难,肌阵挛,癫痫持续状态,下斜睑裂,脑萎缩,额头高,震颤,髓鞘异常,胃食管反流,视网膜变性,孤独症,全身性肌张力减低,视力异常,视神经萎缩,头部控制能力弱,眼球震颤,脑电图，多灶性慢活动,小头畸形,肢体张力亢进,智能衰退,全面发育迟缓,共济失调,步态不稳,行走困难,运动障碍,发育倒退,胎动减少,注意力缺陷多动障碍,上睑下垂,腱反射减弱,语言发育迟缓,胼胝体异常,痉挛,不能生长发育,身材矮小,强直,高度失律,脑病。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ATP6V1A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。
