Disease (OMIM:614923):
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
Branched-chain keto acid dehydrogenase kinase deficiency

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
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: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:0011182
hpo_term: Interictal epileptiform activity
chpo_term: 发作间期癫痫样放电
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0500194
hpo_term: Decreased CSF isoleucine concentration
chpo_term: 脑脊液异亮氨酸浓度降低
id: HP:0011171
hpo_term: Simple febrile seizure
chpo_term: 单纯型热性惊厥
id: HP:0500190
hpo_term: Decreased CSF leucine concentration
chpo_term: 脑脊液亮氨酸浓度降低
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0500188
hpo_term: Decreased CSF valine concentration
chpo_term: 脑脊液缬氨酸浓度降低
id: HP:0500144
hpo_term: Hypoisoleucinemia
chpo_term: 低异亮氨酸血症
id: HP:0500143
hpo_term: Hypoleucinemia
chpo_term: 低亮氨酸血症
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0005326
hpo_term: Hypoplastic philtrum
chpo_term: 人中发育不全
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0000350
hpo_term: Small forehead
chpo_term: 小额头
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0011147
hpo_term: Typical absence seizure
chpo_term: 典型的失神发作
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0000422
hpo_term: Abnormal nasal bridge morphology
chpo_term: 鼻梁形态异常
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0500132
hpo_term: Hypovalinemia
chpo_term: 低缬氨酸血症