Disease (OMIM:615273):
Congenital disorder of deglycosylation 1
CONGENITAL DISORDER OF DEGLYCOSYLATION

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0009938
hpo_term: Sunken cheeks
chpo_term: 脸颊凹陷
id: HP:0025460
hpo_term: High myoinositol in brain by MRS
chpo_term: MRS分析大脑肌醇水平偏高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0012706
hpo_term: Elevated brain choline level by MRS
chpo_term: MRS发现脑胆碱水平升高
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012708
hpo_term: Reduced brain N-acetyl aspartate level by MRS
chpo_term: 通过MRS发现N-乙酰天门冬氨酸水平降低
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0031146
hpo_term: Impaired oral bolus formation
chpo_term: 口腔内食物成团状能力受损
id: HP:0030978
hpo_term: Decreased CSF/serum albumin ratio
chpo_term: 脑脊液白蛋白与血清白蛋白的比值下降
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0012070
hpo_term: Chondroitin sulfate excretion in urine
chpo_term: 尿中排泄硫酸软骨素
id: HP:0025458
hpo_term: Decreased CSF albumin concentration
chpo_term: 脑脊液白蛋白下降
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0025455
hpo_term: Decreased CSF 5-hydroxyindolacetic acid
chpo_term: 脑脊液中5-羟基吲哚乙酸下降
id: HP:0030980
hpo_term: Reduced brain glutamine level by MRS
chpo_term: MRS分析大脑谷氨酰胺水平偏低
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:0030906
hpo_term: Suck reflex
chpo_term: 吸吮反射
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0012069
hpo_term: Keratan sulfate excretion in urine
chpo_term: 尿中排泄硫酸角质素
id: HP:0031162
hpo_term: Impaired oropharyngeal swallow response
chpo_term: 吞咽反应障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0000522
hpo_term: Alacrima
chpo_term: 无泪
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0003448
hpo_term: Decreased sensory nerve conduction velocity
chpo_term: 感觉神经传导速度降低
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002159
hpo_term: Heparan sulfate excretion in urine
chpo_term: 尿中硫酸乙酰肝素排泄
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000350
hpo_term: Small forehead
chpo_term: 小额头
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0010536
hpo_term: Central sleep apnea
chpo_term: 中枢性睡眠呼吸暂停
id: HP:0012520
hpo_term: Dilation of Virchow-Robin spaces
chpo_term: 血管周围间隙扩大
id: HP:0033044
hpo_term: Motor regression
chpo_term: 运动倒退
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0200136
hpo_term: Oral-pharyngeal dysphagia
chpo_term: 口咽部吞咽困难
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症