Disease (OMIM:301066):
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
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:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0500041
hpo_term: Myopic astigmatism
chpo_term: 近视散光
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
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:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
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:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0011803
hpo_term: Bifid nose
chpo_term: 鼻裂
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0012016
hpo_term: EEG with occipital focal spikes
chpo_term: 脑电图，伴枕部局灶棘波。
id: HP:0012017
hpo_term: EEG with parietal focal spikes
chpo_term: 脑电图，伴顶部局灶棘波
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0031165
hpo_term: Multifocal seizures
chpo_term: 多灶性癫痫发作
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0001230
hpo_term: Broad metacarpals
chpo_term: 掌骨变宽
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012014
hpo_term: EEG with central focal spikes
chpo_term: 脑电图，伴中央区局灶棘波
id: HP:0006371
hpo_term: Broad long bone diaphyses
chpo_term: 长骨骨干变宽
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001082
hpo_term: Cholecystitis
chpo_term: 胆囊炎
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视