Disease (OMIM:618659):
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002263
hpo_term: Exaggerated cupid's bow
chpo_term: 夸张的丘比特唇弓
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0012585
hpo_term: Renal atrophy
chpo_term: 肾萎缩
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0009904
hpo_term: Prominent ear helix
chpo_term: 耳轮突出
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0032388
hpo_term: Periventricular nodular heterotopia
chpo_term: 脑室周围结节性异位症
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾