Disease (OMIM:611182):
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
Congenital disorder of glycosylation, type IIh

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
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:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0034337
hpo_term: Claw hand deformity
chpo_term: 爪形手畸形
id: HP:0012301
hpo_term: Type II transferrin isoform profile
chpo_term: II型转铁蛋白异构体谱
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0040019
hpo_term: Finger clinodactyly
chpo_term: 指弯曲
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001188
hpo_term: Hand clenching
chpo_term: 攥拳手
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0034199
hpo_term: Late first trimester onset
chpo_term: 孕早期晚期起病
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0001137
hpo_term: Alternating esotropia
chpo_term: 交替性内斜视
id: HP:0001137
hpo_term: Alternating esotropia
chpo_term: 交替性内斜视
id: HP:0001137
hpo_term: Alternating esotropia
chpo_term: 交替性内斜视
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0025045
hpo_term: Abnormal brain lactate level by MRS
chpo_term: MRS分析大脑乳酸水平异常
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0006846
hpo_term: Acute encephalopathy
chpo_term: 急性脑病
id: HP:0011918
hpo_term: Clinodactyly of the 4th toe
chpo_term: 第四趾屈趾畸形
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0010665
hpo_term: Bilateral coxa valga
chpo_term: 双侧髋外翻
id: HP:0034360
hpo_term: Action myoclonus
chpo_term: 动作性肌阵挛
id: HP:0008150
hpo_term: Elevated serum transaminases during infections
chpo_term: 感染期血清转氨酶升高
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0032220
hpo_term: Interface hepatitis
chpo_term: 界面性肝炎
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0007420
hpo_term: Spontaneous hematomas
chpo_term: 自发性血肿
id: HP:0007267
hpo_term: Chronic axonal neuropathy
chpo_term: 慢性轴索神经病
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0008115
hpo_term: Clinodactyly of the 3rd toe
chpo_term: 第三趾屈趾畸形
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0004855
hpo_term: Reduced protein S activity
chpo_term: 蛋白S活性减低
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌