Disease (ORPHA:280633):
PIGN-CDG
Congenital disorder of glycosylation due to PIGN deficiency
Multiple congenital anomalies-hypotonia-seizures syndrome

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001615
hpo_term: Hoarse cry
chpo_term: 声音嘶哑的哭声
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0004488
hpo_term: Macrocephaly at birth
chpo_term: 出生时巨头畸形
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0010291
hpo_term: Prominent palatine ridges
chpo_term: 腭嵴突出
id: HP:0011247
hpo_term: Prominent superior crus of antihelix
chpo_term: 对耳轮上脚突出
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000350
hpo_term: Small forehead
chpo_term: 小额头
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000932
hpo_term: Abnormal posterior cranial fossa morphology
chpo_term: 后颅窝形态异常
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
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:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002100
hpo_term: Recurrent aspiration pneumonia
chpo_term: 反复吸入性肺炎
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002265
hpo_term: Large fleshy ears
chpo_term: 肥大耳
id: HP:0002286
hpo_term: Fair hair
chpo_term: 金发
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0002951
hpo_term: Partial absence of cerebellar vermis
chpo_term: 小脑蚓部部分缺如
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0004681
hpo_term: Deep longitudinal plantar crease
chpo_term: 跖部深在皱褶纵向分布
id: HP:0004742
hpo_term: Abnormal renal collecting system morphology
chpo_term: 肾集合系统形态异常
id: HP:0004969
hpo_term: Peripheral pulmonary artery stenosis
chpo_term: 周围肺动脉狭窄
id: HP:0005830
hpo_term: Flexion contracture of toe
chpo_term: 脚趾屈曲挛缩
id: HP:0006165
hpo_term: Proportionate shortening of all digits
chpo_term: 所有指（趾）等比缩短
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0007441
hpo_term: Hyperpigmented/hypopigmented macules
chpo_term: 色素沉着/色素减退斑（色素异常斑）
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008635
hpo_term: Hypertrophy of the urinary bladder
chpo_term: 膀胱肥大
id: HP:0008676
hpo_term: Congenital megaureter
chpo_term: 先天性巨输尿管症
id: HP:0008718
hpo_term: Unilateral renal dysplasia
chpo_term: 单侧肾发育不良
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0010282
hpo_term: Thin lower lip vermilion
chpo_term: 上红唇薄
id: HP:0010544
hpo_term: Vertical nystagmus
chpo_term: 垂直眼球震颤
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0011271
hpo_term: Prominent tragus
chpo_term: 耳屏突出
id: HP:0011333
hpo_term: Asymmetric crying face
chpo_term: 不对称哭容
id: HP:0025025
hpo_term: Rectovestibular fistula
chpo_term: 直肠前庭瘘