Disease (ORPHA:2203):
Lysine alpha-ketoglutarate reductase deficiency
Hyperlysinemia
Hyperlysinemia type I

Associated phenotypes (HPO):
id: HP:0025331
hpo_term: Upgaze palsy
chpo_term: 向上凝视麻痹
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0031867
hpo_term: Neck hypertonia
chpo_term: 颈部肌张力增高
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
id: HP:0045074
hpo_term: Thin eyebrow
chpo_term: 细眉
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002161
hpo_term: Hyperlysinemia
chpo_term: 高赖氨酸血症
id: HP:0003131
hpo_term: Cystinuria
chpo_term: 胱氨酸尿症
id: HP:0003268
hpo_term: Argininuria
chpo_term: 精氨酸尿
id: HP:0003297
hpo_term: Hyperlysinuria
chpo_term: 高赖氨酸尿症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010850
hpo_term: EEG with spike-wave complexes
chpo_term: 脑电图，棘慢复合波
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0012403
hpo_term: Decreased urine alpha-ketoglutarate concentration
chpo_term: 尿α-酮戊二酸盐浓度降低
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0500163
hpo_term: Hypoornithinemia
chpo_term: 低鸟氨酸血症
id: HP:0500204
hpo_term: Decreased CSF arginine concentration
chpo_term: 脑脊液精氨酸浓度降低
id: HP:0500208
hpo_term: Increased CSF lysine concentration
chpo_term: 脑脊液赖氨酸浓度升高
id: HP:0500243
hpo_term: Abnormal CSF ornithine concentration
chpo_term: 脑脊液鸟氨酸浓度异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002275
hpo_term: Poor motor coordination
chpo_term: 运动不协调
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0004971
hpo_term: Pulmonary artery hypoplasia
chpo_term: 肺动脉发育不全
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
id: HP:0008589
hpo_term: Hypoplastic helices
chpo_term: 耳轮发育不全
id: HP:0009739
hpo_term: Hypoplasia of the antihelix
chpo_term: 对耳轮发育不全
id: HP:0011171
hpo_term: Simple febrile seizure
chpo_term: 单纯型热性惊厥
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难