Disease (ORPHA:79324):
CDG syndrome type Ig
Congenital disorder of glycosylation type 1g
CDG1G
Congenital disorder of glycosylation type Ig
CDG-Ig
ALG12-CDG
Carbohydrate deficient glycoprotein syndrome type Ig
Mannosyltransferase 8 deficiency

Associated phenotypes (HPO):
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001988
hpo_term: Recurrent hypoglycemia
chpo_term: 反复发作性低血糖
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002389
hpo_term: Cavum septum pellucidum
chpo_term: 第五脑室
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003049
hpo_term: Ulnar deviation of the wrist
chpo_term: 手腕向尺侧偏斜
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003146
hpo_term: Hypocholesterolemia
chpo_term: 低胆固醇血症
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0011327
hpo_term: Posterior plagiocephaly
chpo_term: 后斜头畸形
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012766
hpo_term: Widened cerebral subarachnoid space
chpo_term: 脑蛛网膜下腔扩大
id: HP:0030353
hpo_term: Decreased serum insulin-like growth factor 1
chpo_term: 血清胰岛素样生长因子-1（IGF1）水平降低
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0410240
hpo_term: Abnormal circulating IgA level
chpo_term: 血液IgA异常
id: HP:0410243
hpo_term: Abnormal circulating IgM level
chpo_term: 血液IgM异常
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0410295
hpo_term: Complete or near-complete absence of specific antibody response to tetanus vaccine
chpo_term: 对破伤风疫苗完全或几乎全无特异性抗体应答
id: HP:0410305
hpo_term: Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
chpo_term: 对B型流感嗜血杆菌（Hib）疫苗特异性抗体应答降低
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
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:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0009124
hpo_term: Abnormal adipose tissue morphology
chpo_term: 脂肪组织形态异常
id: HP:0011623
hpo_term: Muscular ventricular septal defect
chpo_term: 肌部室间隔缺损
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0200128
hpo_term: Biventricular hypertrophy
chpo_term: 双心室肥厚
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000759
hpo_term: Abnormal peripheral nervous system morphology
chpo_term: 周围神经系统形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001929
hpo_term: Reduced factor XI activity
chpo_term: 凝血因子XI活性减低
id: HP:0002011
hpo_term: Morphological central nervous system abnormality
chpo_term: 中枢神经系统的形态异常
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0004855
hpo_term: Reduced protein S activity
chpo_term: 蛋白S活性减低
id: HP:0005543
hpo_term: Reduced protein C activity
chpo_term: 蛋白C活性减低
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0040246
hpo_term: Reduced antithrombin antigen
chpo_term: 抗凝血酶抗原减少
id: HP:0100776
hpo_term: Recurrent pharyngitis
chpo_term: 复发性咽炎
id: HP:0410018
hpo_term: Recurrent ear infections
chpo_term: 反复耳部感染
id: HP:0410242
hpo_term: Abnormal circulating IgG level
chpo_term: 血液IgG异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉