Disease (ORPHA:263487):
CDG-IIi
Congenital disorder of glycosylation type 2i
COG5-CDG
Congenital disorder of glycosylation type IIi
Carbohydrate deficient glycoprotein syndrome type IIi
CDG2I
CDG syndrome type IIi

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000599
hpo_term: Abnormality of the frontal hairline
chpo_term: 前额发际线异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003160
hpo_term: Abnormal isoelectric focusing of serum transferrin
chpo_term: 血清转铁蛋白的等电位聚焦异常
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
id: HP:0040019
hpo_term: Finger clinodactyly
chpo_term: 指弯曲
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100678
hpo_term: Premature skin wrinkling
chpo_term: 皮肤过早起皱
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍