Disease (OMIM:617799):
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
Intellectual developmental disorder, autosomal dominant 54

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000680
hpo_term: Delayed eruption of primary teeth
chpo_term: 乳牙萌出延迟
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011445
hpo_term: Athetoid cerebral palsy
chpo_term: 手足徐动型脑瘫
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0001816
hpo_term: Thin nail
chpo_term: 薄甲
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0002883
hpo_term: Hyperventilation
chpo_term: 过度通气
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
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:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0032988
hpo_term: Persistent head lag
chpo_term: 持续性头滞后
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0500093
hpo_term: Food allergy
chpo_term: 食物过敏
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症