Disease (OMIM:309580):
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
Intellectual disability-hypotonic facies syndrome, X-linked

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
id: HP:0010806
hpo_term: U-Shaped upper lip vermilion
chpo_term: U型上红唇
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0009466
hpo_term: Radial deviation of finger
chpo_term: 手指桡侧偏斜
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0001566
hpo_term: Widely-spaced maxillary central incisors
chpo_term: 上颌中切牙牙间隙增宽
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0001884
hpo_term: Talipes calcaneovalgus
chpo_term: 跟骨畸形
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000451
hpo_term: Triangular nasal tip
chpo_term: 三角鼻尖
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
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:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000188
hpo_term: Short upper lip
chpo_term: 上唇短小
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0005326
hpo_term: Hypoplastic philtrum
chpo_term: 人中发育不全
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:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000749
hpo_term: Paroxysmal bursts of laughter
chpo_term: 阵发性大笑
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0006887
hpo_term: Intellectual disability, progressive
chpo_term: 进行性智力障碍
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾