Disease (ORPHA:468631):
Microcephalic cortical malformations-short stature due to RTTN deficiency

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001525
hpo_term: Severe failure to thrive
chpo_term: 严重生长障碍
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000125
hpo_term: Pelvic kidney
chpo_term: 盆腔肾
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000315
hpo_term: Abnormality of the orbital region
chpo_term: 眼眶异常
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0004742
hpo_term: Abnormal renal collecting system morphology
chpo_term: 肾集合系统形态异常
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0006870
hpo_term: Lobar holoprosencephaly
chpo_term: 脑叶性前脑无裂畸形
id: HP:0006872
hpo_term: Cerebral hypoplasia
chpo_term: 脑发育不全
id: HP:0006955
hpo_term: Olivopontocerebellar hypoplasia
chpo_term: 橄榄桥脑小脑发育不全
id: HP:0007165
hpo_term: Periventricular heterotopia
chpo_term: 脑室周围灰质异位
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007333
hpo_term: Hypoplasia of the frontal lobes
chpo_term: 额叶发育不良
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
id: HP:0009905
hpo_term: Thin ear helix
chpo_term: 耳轮变薄
id: HP:0005650
hpo_term: 2-5 finger cutaneous syndactyly
chpo_term: 第二-五指皮肤性并指
id: HP:0010705
hpo_term: 4-5 finger syndactyly
chpo_term: 第四-五指并指
id: HP:0010767
hpo_term: Sacrococcygeal pilonidal abnormality
chpo_term: 骶尾部藏毛异常
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0012294
hpo_term: Abnormal occipital bone morphology
chpo_term: 枕骨形态异常
id: HP:0030260
hpo_term: Microphallus
chpo_term: 阴茎过小
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为