Disease (OMIM:616271):
3-METHYLGLUTACONIC ACIDURIA, TYPE VII
3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

Associated phenotypes (HPO):
id: HP:0033606
hpo_term: Bone marrow maturation arrest
chpo_term: 骨髓成熟停滞
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0010920
hpo_term: Zonular cataract
chpo_term: 带状白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0033454
hpo_term: Tube feeding
chpo_term: 管饲
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0033229
hpo_term: Brachioradialis areflexia
chpo_term: 肱桡肌反射消失
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症