Disease (OMIM:613454):
RETT SYNDROME, CONGENITAL VARIANT
Rett syndrome, congenital variant

Associated phenotypes (HPO):
id: HP:0030215
hpo_term: Inappropriate crying
chpo_term: 不合时宜的哭泣
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0100703
hpo_term: Tongue thrusting
chpo_term: 吐舌习惯
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002835
hpo_term: Aspiration
chpo_term: 误吸
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0007333
hpo_term: Hypoplasia of the frontal lobes
chpo_term: 额叶发育不良
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式