Disease (ORPHA:3095):
Rett syndrome variant
Atypical RTT
Atypical Rett syndrome

Associated phenotypes (HPO):
id: HP:0003808
hpo_term: Abnormal muscle tone
chpo_term: 肌张力异常
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012719
hpo_term: Functional abnormality of the gastrointestinal tract
chpo_term: 胃肠道功能异常
id: HP:0032588
hpo_term: Hand apraxia
chpo_term: 手失用症
id: HP:0032807
hpo_term: Neonatal seizure
chpo_term: 新生儿癫痫发作
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
id: HP:0100703
hpo_term: Tongue thrusting
chpo_term: 吐舌习惯
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000748
hpo_term: Inappropriate laughter
chpo_term: 不适宜的发笑
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0007281
hpo_term: Developmental stagnation
chpo_term: 发育停滞
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0025269
hpo_term: Panic attack
chpo_term: 惊恐发作（急性焦虑发作）
id: HP:0025387
hpo_term: Pill-rolling tremor
chpo_term: 搓丸样震颤
id: HP:0030215
hpo_term: Inappropriate crying
chpo_term: 不合时宜的哭泣
id: HP:0007824
hpo_term: Total ophthalmoplegia
chpo_term: 全眼肌麻痹
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0000723
hpo_term: Restrictive behavior
chpo_term: 限制性行为
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002876
hpo_term: Episodic tachypnea
chpo_term: 阵发性呼吸急促
id: HP:0002882
hpo_term: Sudden episodic apnea
chpo_term: 突然发作性呼吸暂停