Disease (ORPHA:247262):
Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0006118
hpo_term: Shortening of all distal phalanges of the fingers
chpo_term: 手指的所有远端指骨缩短
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000594
hpo_term: Shallow anterior chamber
chpo_term: 浅前房
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002392
hpo_term: EEG with polyspike wave complexes
chpo_term: 脑电图，伴多棘慢复合波
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002696
hpo_term: Abnormal parietal bone morphology
chpo_term: 顶骨形态异常
id: HP:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
id: HP:0010850
hpo_term: EEG with spike-wave complexes
chpo_term: 脑电图，棘慢复合波
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0040194
hpo_term: Increased head circumference
chpo_term: 头围增加
id: HP:0040195
hpo_term: Decreased head circumference
chpo_term: 头围减小