Disease (ORPHA:391428):
HSD10 disease, infantile type
2-methyl-3-hydroxybutyric aciduria, classic type
MHBD deficiency, classic type
HSD10 deficiency, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
MHBD deficiency, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
HSD10 disease, classic type
HSD10 deficiency, classic type
2-methyl-3-hydroxybutyric aciduria, infantile type

Associated phenotypes (HPO):
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0006892
hpo_term: Frontotemporal cerebral atrophy
chpo_term: 额颞叶萎缩
id: HP:0007030
hpo_term: Nonprogressive encephalopathy
chpo_term: 非进行性脑病
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0010936
hpo_term: Abnormality of the lower urinary tract
chpo_term: 下尿路异常
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0030391
hpo_term: Spoken word recognition deficit
chpo_term: 口语词汇识别能力降低
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0003287
hpo_term: Abnormality of mitochondrial metabolism
chpo_term: 线粒体代谢异常
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0500170
hpo_term: Abnormal concentration of acylcarnitine in the urine
chpo_term: 尿酰基肉碱浓度异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0000749
hpo_term: Paroxysmal bursts of laughter
chpo_term: 阵发性大笑
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱