Disease (OMIM:612513):
Chromosome 2p16.1-p15 deletion syndrome
CHROMOSOME 2p16.1-p15 DELETION SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0001848
hpo_term: Calcaneovalgus deformity
chpo_term: 足外翻畸形
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
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:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0005274
hpo_term: Prominent nasal tip
chpo_term: 鼻尖突出
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾