Disease (ORPHA:79101):
Hyperprolinemia type 2
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
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:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
id: HP:0003080
hpo_term: Hydroxyprolinuria
chpo_term: 羟脯氨酸尿症
id: HP:0003137
hpo_term: Prolinuria
chpo_term: 脯氨酸尿
id: HP:0008358
hpo_term: Hyperprolinemia
chpo_term: 高脯氨酸血症
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0012402
hpo_term: Increased urine alpha-ketoglutarate concentration
chpo_term: 尿α-酮戊二酸浓度增高
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002154
hpo_term: Hyperglycinemia
chpo_term: 高甘氨酸血症
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0008326
hpo_term: Reduced circulating vitamin B6 level
chpo_term: 维生素B6缺乏症
id: HP:0011199
hpo_term: EEG with generalized sharp slow waves
chpo_term: 脑电图，伴广泛性尖慢波
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000511
hpo_term: Vertical supranuclear gaze palsy
chpo_term: 垂直性核上性凝视麻痹
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001345
hpo_term: Psychotic mentation
chpo_term: 精神心理状态
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0011152
hpo_term: Early onset absence seizures
chpo_term: 早发性失神发作
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
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍