Disease (ORPHA:369837):
PIGT-CDG
Congenital disorder of glycosylation due to PIGT deficiency
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
MCAHS type 3

Associated phenotypes (HPO):
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011842
hpo_term: Abnormal skeletal morphology
chpo_term: 骨骼形态异常
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0003282
hpo_term: Low alkaline phosphatase
chpo_term: 低碱性磷酸酶
id: HP:0008676
hpo_term: Congenital megaureter
chpo_term: 先天性巨输尿管症
id: HP:0009824
hpo_term: Upper limb undergrowth
chpo_term: 上肢发育不良
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0012373
hpo_term: Abnormal eye physiology
chpo_term: 眼部生理异常
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001723
hpo_term: Restrictive cardiomyopathy
chpo_term: 限制型心肌病
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002263
hpo_term: Exaggerated cupid's bow
chpo_term: 夸张的丘比特唇弓
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0006961
hpo_term: Jerky head movements
chpo_term: 抽动样头部运动
id: HP:0010536
hpo_term: Central sleep apnea
chpo_term: 中枢性睡眠呼吸暂停
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0010850
hpo_term: EEG with spike-wave complexes
chpo_term: 脑电图，棘慢复合波
id: HP:0011199
hpo_term: EEG with generalized sharp slow waves
chpo_term: 脑电图，伴广泛性尖慢波
id: HP:0011470
hpo_term: Nasogastric tube feeding in infancy
chpo_term: 婴儿期鼻胃管饲
id: HP:0012718
hpo_term: Morphological abnormality of the gastrointestinal tract
chpo_term: 胃肠道形态异常
id: HP:0025330
hpo_term: Downgaze palsy
chpo_term: 向下凝视麻痹
id: HP:0030856
hpo_term: Posterior staphyloma
chpo_term: 后巩膜葡萄肿