Disease (ORPHA:79329):
CDG-IIa
CDG syndrome type IIa
MGAT2-CDG
Carbohydrate deficient glycoprotein syndrome type IIa
N-acetylglucosaminyltransferase 2 deficiency
Congenital disorder of glycosylation type 2a
CDG2A
Congenital disorder of glycosylation type IIa

Associated phenotypes (HPO):
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0003655
hpo_term: Reduced level of N-acetylglucosaminyltransferase II
chpo_term: N-乙酰氨基葡萄糖转移酶II活性降低
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000363
hpo_term: Abnormal earlobe morphology
chpo_term: 耳垂形态异常
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000395
hpo_term: Prominent antihelix
chpo_term: 对耳轮突出
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001929
hpo_term: Reduced factor XI activity
chpo_term: 凝血因子XI活性减低
id: HP:0001965
hpo_term: Abnormal scalp morphology
chpo_term: 头皮形态异常
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0002578
hpo_term: Gastroparesis
chpo_term: 胃轻瘫
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0003347
hpo_term: Impaired lymphocyte transformation with phytohemagglutinin
chpo_term: 植物血凝素淋巴细胞转化受损
id: HP:0003540
hpo_term: Impaired platelet aggregation
chpo_term: 血小板聚集障碍
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0005387
hpo_term: Combined immunodeficiency
chpo_term: 联合免疫缺陷
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0010990
hpo_term: Abnormality of the common coagulation pathway
chpo_term: 共同凝血途径异常
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0031381
hpo_term: Decreased lymphocyte proliferation in response to mitogen
chpo_term: 淋巴细胞有丝分裂原应答性增殖减弱
id: HP:0200117
hpo_term: Recurrent upper and lower respiratory tract infections
chpo_term: 上下呼吸道反复感染
id: HP:0500173
hpo_term: Reflex asystolic syncope
chpo_term: 心脏停搏所致的反射性晕厥
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病