Disease (OMIM:620113):
NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000879
hpo_term: Short sternum
chpo_term: 短胸骨
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
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:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0011918
hpo_term: Clinodactyly of the 4th toe
chpo_term: 第四趾屈趾畸形
id: HP:0010747
hpo_term: Medial flaring of the eyebrow
chpo_term: 眉中部发散扩展
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001864
hpo_term: Clinodactyly of the 5th toe
chpo_term: 第五趾屈曲畸形
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0030048
hpo_term: Colpocephaly
chpo_term: 枕角扩大畸形
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0011229
hpo_term: Broad eyebrow
chpo_term: 宽眉
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0007413
hpo_term: Nevus flammeus of the forehead
chpo_term: 前额鲜红斑痣
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓