Disease (ORPHA:495818):
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
Del(9)(q33.3q34.11)
9q33.3q34.11 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002003
hpo_term: Large forehead
chpo_term: 大额头
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011822
hpo_term: Broad chin
chpo_term: 宽下巴
id: HP:0200005
hpo_term: Abnormal shape of the palpebral fissure
chpo_term: 睑裂形状异常
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0006471
hpo_term: Fixed elbow flexion
chpo_term: 肘关节曲位固定
id: HP:0010665
hpo_term: Bilateral coxa valga
chpo_term: 双侧髋外翻
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0010720
hpo_term: Abnormal hair pattern
chpo_term: 毛发分布异常
id: HP:0011825
hpo_term: Tented philtrum
chpo_term: 帐篷型人中
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎