Disease (OMIM:620098):
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
Developmental delay with variable intellectual disability and dysmorphic facies

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002263
hpo_term: Exaggerated cupid's bow
chpo_term: 夸张的丘比特唇弓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0009183
hpo_term: Joint contracture of the 5th finger
chpo_term: 第五指关节挛缩
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
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:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
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:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍