Disease (ORPHA:329224):
PACS1-NDD
PACS1-neurodevelopmental disorder
Schuurs-Hoeijmakers syndrome
PACS1-related syndrome

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0012523
hpo_term: Oral aversion
chpo_term: 口服厌恶
id: HP:0025160
hpo_term: Abnormal temper tantrums
chpo_term: 异常发脾气
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000699
hpo_term: Diastema
chpo_term: 牙间隙
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002389
hpo_term: Cavum septum pellucidum
chpo_term: 第五脑室
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002951
hpo_term: Partial absence of cerebellar vermis
chpo_term: 小脑蚓部部分缺如
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005421
hpo_term: Decreased serum complement C3
chpo_term: 血清补体C3减少
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0010821
hpo_term: Focal emotional seizure with laughing
chpo_term: 伴大笑的局灶情绪性发作
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食