Disease (OMIM:620070):
NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
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:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
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:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0034353
hpo_term: Appendicular spasticity
chpo_term: 四肢痉挛
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0009085
hpo_term: Alveolar ridge overgrowth
chpo_term: 牙槽嵴增生
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0011625
hpo_term: Multiple muscular ventricular septal defects
chpo_term: 多发肌部型室间隔缺损
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0033044
hpo_term: Motor regression
chpo_term: 运动倒退
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤