Disease (OMIM:613457):
CHROMOSOME 14q11-q22 DELETION SYNDROME
Chromosome 14q11-q22 deletion syndrome

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0012741
hpo_term: Unilateral cryptorchidism
chpo_term: 单侧隐睾
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
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:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0010544
hpo_term: Vertical nystagmus
chpo_term: 垂直眼球震颤
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001947
hpo_term: Renal tubular acidosis
chpo_term: 肾小管性酸中毒
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0030043
hpo_term: Hip subluxation
chpo_term: 髋关节半脱位
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0100960
hpo_term: Lateral ventricular asymmetry
chpo_term: 侧脑室不对称
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾