Disease (OMIM:619435):
RITSCHER-SCHINZEL SYNDROME 4
Ritscher-Schinzel syndrome 4

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0025101
hpo_term: Dysgenesis of the hippocampus
chpo_term: 海马回发育不全
id: HP:0004283
hpo_term: Narrow palm
chpo_term: 手掌狭窄
id: HP:0008491
hpo_term: Premature anterior fontanel closure
chpo_term: 前囟过早闭合
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0010952
hpo_term: Mild fetal ventriculomegaly
chpo_term: 轻度胎儿脑室扩大
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0003066
hpo_term: Limited knee extension
chpo_term: 伸膝受限
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0031061
hpo_term: Impaired toileting ability
chpo_term: 如厕能力受损
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾