Disease (ORPHA:500055):
Hao-Fountain syndrome due to 16p13.2 microdeletion
Del(16)(p13.2)
Monosomy 16p13.2
Chromosome 16p13.2 deletion syndrome

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007082
hpo_term: Dilated third ventricle
chpo_term: 第三脑室扩张
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0008770
hpo_term: Obsessive-compulsive trait
chpo_term: 强迫特质
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0012166
hpo_term: Skin-picking
chpo_term: 皮肤剔除
id: HP:0025160
hpo_term: Abnormal temper tantrums
chpo_term: 异常发脾气
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手