Disease (ORPHA:163956):
X-linked intellectual disability-nail dystrophy-seizures syndrome
X-linked intellectual disability, Nascimento type

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0007103
hpo_term: Hypointensity of cerebral white matter on MRI
chpo_term: MRI脑白质低信号
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001718
hpo_term: Mitral stenosis
chpo_term: 二尖瓣狭窄
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0004969
hpo_term: Peripheral pulmonary artery stenosis
chpo_term: 周围肺动脉狭窄
id: HP:0005345
hpo_term: Abnormal vena cava morphology
chpo_term: 腔静脉形态异常
id: HP:0007509
hpo_term: Patchy hypo- and hyperpigmentation
chpo_term: 斑片状色素减退和色素沉着
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0010721
hpo_term: Abnormal hair whorl
chpo_term: 毛发异常旋涡式生长
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011913
hpo_term: Lumbar hypertrichosis
chpo_term: 腰部多毛症
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0030311
hpo_term: Lower extremity joint dislocation
chpo_term: 下肢关节脱位
id: HP:0100760
hpo_term: Clubbing of toes
chpo_term: 杵状趾
id: HP:0100838
hpo_term: Recurrent cutaneous abscess formation
chpo_term: 复发性皮肤脓肿
id: HP:0410018
hpo_term: Recurrent ear infections
chpo_term: 反复耳部感染