Disease (OMIM:611209):
Congenital disorder of glycosylation, type IIg
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg

Associated phenotypes (HPO):
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005575
hpo_term: Hemolytic-uremic syndrome
chpo_term: 溶血性尿毒症综合征
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0012301
hpo_term: Type II transferrin isoform profile
chpo_term: II型转铁蛋白异构体谱
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0003316
hpo_term: Butterfly vertebrae
chpo_term: 蝴蝶椎
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0003177
hpo_term: Squared iliac bones
chpo_term: 方形髂骨
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0003090
hpo_term: Hypoplasia of the capital femoral epiphysis
chpo_term: 股骨近端骨骺发育不全
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001902
hpo_term: Giant platelets
chpo_term: 巨血小板
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0030282
hpo_term: Posterior rib gap
chpo_term: 肋骨后部间隙
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0000274
hpo_term: Small face
chpo_term: 小脸
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0003182
hpo_term: Shallow acetabular fossae
chpo_term: 髋臼窝变浅
id: HP:0000902
hpo_term: Rib fusion
chpo_term: 肋骨融合
id: HP:0009797
hpo_term: Cholesteatoma
chpo_term: 胆脂瘤
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌