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HEREDITARY DISEASE DETECTION遗传病检测

脑瘫样疾病

 

该检验包包括临床有脑瘫及脑瘫样表现的疾病的共计234个基因,268种疾病。主要包括甘氨酸脑病、小脑发育不全、球型细胞脑白质营养不良、Zellweger综合征等。


主要疾病如下:

1

Pontocerebellar hypoplasia

小脑发育不全

2

Pontocerebellar hypoplasia, type 9

小脑发育不全9

3

Neurodegeneration with brain iron accumulation 1

脑铁紊乱神经退性病变

4

Neurodegeneration with brain iron accumulation 4

脑铁紊乱神经退性病变4

5

Schizencephaly

脑裂畸形

6

Schizencephaly

脑裂畸形

7

Holoprosencephaly 3

前脑无裂畸形3

8

Holoprosencephaly-4

前脑无裂畸形4

9

Holoprosencephaly-2

前脑无裂畸形2

10

Holoprosencephaly-5

前脑无裂畸形5

11

Lissencephaly 1

无脑回畸形1

12

Krabbe disease

球型细胞脑白质营养不良

13

Leukoencephalopathy, cystic, without megalencephaly

囊性脑白质病无巨脑症

14

Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic

巨脑症-毛细血管畸形-多小脑回畸形综合征 体细胞

15

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2

多小脑回畸形巨脑畸形脑积水综合征2

16

?Lissencephaly 7 with cerebellar hypoplasia

?无脑回畸形7型 伴小脑发育不全

17

Periventricular heterotopia with microcephaly

脑室旁灰质异位伴小头畸形

18

Hydrocephalu

脑积水

19

Hydrocephalus with congenital idiopathic intestinal pseudoobstruction

脑积水与先天性特发性假性肠梗阻 

20

Hydrocephalus with Hirschsprung disease

脑积水与先天性巨结肠症

21

Hydrocephalus due to aqueductal stenosis

脑积水中脑导水管硬化导致

22

Cerebral creatine deficiency syndrome 2

脑肌酸缺乏症2

23

Cerebral creatine deficiency syndrome 3

脑肌酸缺乏症3

24

Glycine encephalopathy

甘氨酸脑病

25

Spinocerebellar ataxia, autosomal recessive 7

脊髓小脑共济失调 常染色体隐性遗传 7

26

Vanishing white matter disease (VWM)

白质消融性白质脑病

27

Vanishing white matter disease (VWM)

白质消融性白质脑病

28

Vanishing white matter disease (VWM)

白质消融性白质脑病

29

Vanishing white matter disease (VWM)

白质消融性白质脑病

30

Vanishing white matter disease (VWM)

白质消融性白质脑病

31

Ovarioleukodystrophy

卵巢性脑白质营养不良

32

Ovarioleukodystrophy

卵巢性脑白质营养不良

33

Ovarioleukodystrophy

卵巢性脑白质营养不良

34

Leukodystrophy, hypomyelinating, 2

脑白质营养不良 2

35

Leukodystrophy, hypomyelinating, 4

脑白质营养不良 4

36

Leukodystrophy hypomyelinating type5

脑白质营养不良 5

37

Leukodystrophy hypomyelinating type7 (HLD7) (POLIII-related leukodystrophy)

脑白质营养不良7型 聚合酶III相关脑白质营养不良

38

Leukodystrophy hypomyelinating type8 (HLD8) (POLIII-related leukodystrophy)

脑白质营养不良8型 聚合酶III相关脑白质营养不良

39

Metachromatic leukodystrophy 

异染性脑白质营养不良

40

Progressive external ophthalmoplegia, autosomal recessive 1

进行性眼外肌麻痹,常染色体隐性遗传 1

41

Progressive external ophthalmoplegia, autosomal dominant 1

进行性眼外肌麻痹,常染色体显性遗传 1

42

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

进行性眼外肌麻痹伴线粒体DNA缺失 常染色体显性遗传 5

43

{Dystonia-1, modifier of}

{肌张力障碍 1型 修饰型}

44

Dystonia 9

肌张力障碍 9

45

Dystonia-1, torsion

扭转性肌张力障碍 1

46

Muscular dystrophy, congenital, due to partial LAMA2 deficiency

由于部分性LAMA2缺乏导致的先天性肌营养不良

47

Becker muscular dystrophy

Becker型肌营养不良症

48

Duchenne muscular dystrophy

Duchenne型肌营养不良症

49

Cardiomyopathy, dilated, 3B

扩张型心肌病 3B

50

Amyotrophic lateral sclerosis 9

肌萎缩侧索硬化 9

51

Charcot-Marie-Tooth disease, axonal, type 2U

腓骨肌萎缩症 2U型 轴突型

52

Charcot-Marie-Tooth disease, type 4K

腓骨肌萎缩症 4K

53

Spinal muscular atrophy, lower extremity-predominant, 2, AD

脊髓性肌萎缩症 显性遗传 2 AD型 下肢显著型

54

Muscular dystrophy, congenital merosin-deficient

MDC1A肌营养不良

55

Maple syrup urine disease, type Ia

枫糖尿症 Ia

56

Maple syrup urine disease, type Ib

枫糖尿症 Ib

57

Maple syrup urine disease, type II

枫糖尿症 II

58

Methylmalonic aciduria, cblD type, variant 2

甲基丙二酸尿症 cblD型 变异型 2

59

Methylmalonic aciduria, MUT type

甲基丙二酸尿症mut

60

Methylmalonic aciduria, vitamin B12-responsive

甲基丙二酸尿症 响应维生素 B12 

61

Methylmalonic aciduria, vitamin B12-responsive

甲基丙二酸尿症 响应维生素 B12 

62

3-methylglutaconic aciduria, type III

3-甲基戊烯二酸尿症 III

63

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

3-甲基戊烯二酸尿症伴耳聋 脑病和Leigh氏综合征

64

3-methylglutaconic aciduria, type I

3-Methylglutaconic酸尿症I

65

3-methylglutaconic aciduria, type III

3-Methylglutaconic酸尿症III

66

3-methylglutaconic aciduria, type V

3-Methylglutaconic酸尿症V

67

L-2-hydroxyglutaric aciduria

L-2-羟基戊二酸尿症

68

Glutaricaciduria, type I

戊二酸尿症 I

69

Homocystinuria, cblD type, variant 1

高胱胺酸尿症 cblD型 变异型 1

70

Hyperphenylalaninemia, BH4-deficient, B

高苯丙氨酸血症 B BH4缺乏引起的

71

Propionic acidemia

丙酸血症

72

Propionic acidemia

丙酸血症

73

Methylmalonic aciduria and homocystinuria, cblC type

甲基丙二酸血症&高胱氨酸尿症 cblC

74

Methylmalonic aciduria and homocystinuria, cblD type

甲基丙二酸血症&高胱氨酸尿症 cblD

75

Methylmalonic aciduria and homocystinuria, cblF type

甲基丙二酸血症&高胱氨酸尿症 cblF

76

Dystonia, DOPA-responsive, with or without hyperphenylalaninemia

多巴反应性肌张力障碍伴或不伴高苯丙氨酸血症

77

Hyperlipoproteinemia, type III

高脂蛋白血症 III

78

Galactosemia

半乳糖血症

79

?Cerebral palsy, spastic quadriplegic, 1

?脑性瘫痪 痉挛性四肢瘫型1

80

Cerebral palsy, spastic quadriplegic, 2

脑性瘫痪 痉挛性四肢瘫型2

81

Cerebral palsy, spastic quadriplegic, 3

脑性瘫痪 痉挛性四肢瘫痪3

82

Epileptic encephalopathy, early infantile, 2

早期幼儿癫痫性脑病2

83

{Intracranial hemorrhage in brain cerebrovascular malformations, 

{脑血管畸形颅内出血 易感性}

84

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1

脑动脉病伴皮层下梗死和脑白质病变1

85

Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)

硫胺素代谢功能紊乱综合征2型(生物素或硫胺素反应性脑病,2型 )

86

Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)

硫胺素代谢功能紊乱综合征5型(发作性脑病型)

87

Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants

脑淀粉样血管病(荷兰、意大利、爱荷华州、佛兰德、北极地区变异型)

88

Cerebral amyloid angiopathy, PRNP-related

PRNP相关性脑淀粉样血管病

89

Pelizaeus-Merzbacher disease

佩梅病

90

Alexander disease

亚历山大病

91

Niemann-Pick disease, type C2

尼曼匹克病C2

92

Ceroid lipofuscinosis, neuronal, 1

神经元蜡样质脂褐素沉积病1

93

Ceroid lipofuscinosis, neuronal, 2

神经元蜡样质脂褐素沉积病2

94

Hyperekplexia, hereditary 1

遗传性惊跳病1

95

Hyperekplexia, hereditary 2

遗传性惊跳病2

96

Hyperekplexia, hereditary 3

遗传性惊跳病3

97

Thrombophilia due to protein C deficiency, autosomal dominant

由于蛋白质C缺乏症导致的易栓症 常染色体显性遗传

98

Thrombophilia due to protein C deficiency, autosomal recessive

由于蛋白质C缺乏症导致的易栓症 常染色体隐性遗传

99

Combined oxidative phosphorylation deficiency 7

联合性氧化磷酸化缺乏症7

100

Combined oxidative phosphorylation deficiency 15

联合性氧化磷酸化缺乏症15

101

Acyl-CoA dehydrogenase, medium chain

中链酰基辅酶 a 脱氢酶缺乏症

102

Acyl-CoA dehydrogenase, short chain

短链酰基辅酶 a 脱氢酶缺乏症

103

Biotinidase deficiency

生物素酶缺乏症

104

Aromatic L-amino acid decarboxylase deficiency

芳香族L-胺基酸类脱羧基酶缺乏症

105

Fumarase deficiency

延胡索酸酶缺乏症

106

Methylmalonyl-CoA epimerase deficiency

酰辅差向异构酶缺乏症

107

Succinic semialdehyde dehydrogenase deficiency

智琥珀酸半醛脱氢酶缺乏症

108

3-Methylcrotonyl-CoA carboxylase 1 deficiency

3-甲基巴豆酰辅酶A羧化酶缺乏症

109

Molybdenum cofactor deficiency C

钼辅脢缺乏症c

110

Pituitary hormone deficiency, combined, 5

联合性垂体激素缺乏症5

111

Trifunctional protein deficiency

三功能蛋白缺乏症

112

Trifunctional protein deficiency

三功能蛋白缺乏症

113

Coenzyme Q10 deficiency, primary, 3

原发性辅酶Q10缺乏3

114

Coenzyme Q10 deficiency, primary, 4

原发性辅酶Q10缺乏4

115

Growth hormone deficiency with pituitary anomalies

生长激素缺乏及垂体异常

116

Dihydrolipoamide dehydrogenase deficiency

双氢硫辛酰胺脱氢酶缺乏

117

Lipoyltransferase 1 deficiency

脂肪酸转移酶-1缺乏

118

Mitochondrial complex 1 deficiency

线粒体复合物I缺乏

119

Mitochondrial complex I deficiency

线粒体复合物I缺乏

120

Mitochondrial respiratory chain complex II deficiency

线粒体呼吸链复合物II缺陷

121

Mitochondrial complex IV deficiency

线粒体复合物IV缺乏

122

Pyruvate dehydrogenase E1-alpha deficiency

丙酮酸脱氢酶E1-α缺乏

123

Pyruvate dehydrogenase E1-beta deficiency

丙酮酸脱氢酶E1-α缺乏

124

Sulfite oxidase deficiency

亚硫酸盐氧化酶缺乏

125

Stomatin-deficient cryohydrocytosis with neurologic defects

Stomatin缺乏型cryohydrocytosis伴神经缺损

126

Growth retardation with deafness and mental retardation due to IGF1 deficiency

由于IGF1缺乏导致的生长阻滞伴耳聋和精神发育迟滞

127

Immunodeficiency due to purine nucleoside phosphorylase deficiency

嘌呤核苷磷酸化酶缺乏引起的免疫缺陷

128

Ataxia with isolated vitamin E deficiency

孤立性维生素E缺乏型共济失调

129

Holocarboxylase synthetase deficiency 

全羧化酶合成酶缺乏

130

GABA-transaminase deficiency

γ-氨基丁酸转氨酶缺乏

131

Plasminogen activator inhibitor-1 deficiency

Ⅰ型纤溶酶原激活剂抑制物缺乏

132

Glucocorticoid deficiency, due to ACTH unresponsiveness

由于ACTH无反应性导致的糖皮质激素缺乏

133

Peroxisomal acyl-CoA oxidase deficiency

过氧化物酶酰基辅酶A氧化酶缺乏

134

Spastic paraplegia 2, X-linked

痉挛性截瘫2 X连锁

135

Spastic paraplegia 3A,AD

常染色体显性痉挛性截瘫3A

136

Spastic paraplegia 4, autosomal dominant

常染色体显性痉挛性截瘫4

137

Spastic paraplegia 5A, autosomal recessive 

常染色体隐性痉挛性截瘫5A

138

Spastic paraplegia 6, autosomal dominant

常染色体显性痉挛性截瘫6

139

Spastic paraplegia 7, autosomal recessive

常染色体隐性痉挛性截瘫7

140

Spastic paraplegia 8, autosomal dominant

常染色体显性痉挛性截瘫8

141

Spastic paraplegia 10, autosomal dominant

常染色体显性痉挛性截瘫10

142

Spastic paraplegia 11, autosomal recessive

常染色体隐性痉挛性截瘫11

143

Spastic paraplegia 12, autosomal dominant

常染色体显性痉挛性截瘫12

144

Spastic paraplegia 13, autosomal dominant

常染色体显性痉挛性截瘫13

145

Spastic paraplegia 15, autosomal recessive

常染色体隐性痉挛性截瘫15

146

Spastic paraplegia 18, autosomal recessive

常染色体隐性痉挛性截瘫18

147

Spastic paraplegia 26, autosomal recessive

常染色体隐性痉挛性截瘫26

148

Spastic paraplegia 28, autosomal recessive

常染色体隐性痉挛性截瘫28

149

Spastic paraplegia 30, autosomal recessive

常染色体隐性痉挛性截瘫30

150

Spastic paraplegia 31, autosomal dominant

常染色体显性痉挛性截瘫31

151

Spastic paraplegia 33, autosomal dominant

常染色体显性痉挛性截瘫33

152

Spastic paraplegia 35, autosomal recessive

常染色体隐性痉挛性截瘫35

153

Spastic paraplegia 39, autosomal recessive

常染色体隐性痉挛性截瘫39

154

Spastic paraplegia 42, autosomal dominant

常染色体显性痉挛性截瘫42

155

Spastic paraplegia 43, autosomal recessive

常染色体隐性痉挛性截瘫43

156

Spastic paraplegia 44, autosomal recessive

常染色体隐性痉挛性截瘫44

157

Spastic paraplegia 45, autosomal recessive

常染色体隐性痉挛性截瘫45

158

Spastic paraplegia 46, autosomal recessive

常染色体隐性痉挛性截瘫46

159

Spastic paraplegia 47, autosomal recessive

常染色体隐性痉挛性截瘫47

160

Spastic paraplegia 48, autosomal recessive

常染色体隐性痉挛性截瘫48

161

Spastic paraplegia 50, autosomal recessive

常染色体隐性痉挛性截瘫50

162

Spastic paraplegia 51, autosomal recessive

常染色体隐性痉挛性截瘫51

163

Spastic paraplegia 52, autosomal recessive

常染色体隐性痉挛性截瘫52

164

Spastic paraplegia 54, autosomal recessive

常染色体隐性痉挛性截瘫54

165

Spastic paraplegia 55, autosomal recessive 

常染色体隐性痉挛性截瘫55

166

Spastic paraplegia 56, autosomal recessive

常染色体隐性痉挛性截瘫56

167

Spastic paraplegia 57, autosomal recessive

常染色体隐性痉挛性截瘫57

168

Spastic paraplegia 61, autosomal recessive

常染色体隐性痉挛性截瘫61

169

Spastic paraplegia 63

痉挛性截瘫63

170

Spastic paraplegia 64

痉挛性截瘫64

171

Spastic paralysis, infantile-onset

婴儿型痉挛性截瘫

172

Zellweger Syndrome

Zellweger综合征

173

Zellweger Syndrome

Zellweger综合征

174

Zellweger Syndrome

Zellweger综合征

175

Zellweger Syndrome

Zellweger综合征

176

Zellweger Syndrome

Zellweger综合征

177

Zellweger Syndrome

Zellweger综合征

178

Zellweger Syndrome

Zellweger综合征

179

Zellweger Syndrome

Zellweger综合征

180

Zellweger Syndrome

Zellweger综合征

181

Zellweger Syndrome

Zellweger综合征

182

Zellweger Syndrome

Zellweger综合征

183

Leigh syndrome

Leigh综合征

184

Leigh syndrome

Leigh综合征

185

Leigh syndrome

Leigh综合征

186

Leigh syndrome

Leigh综合征

187

Leigh syndrome

Leigh综合征

188

Leigh syndrome

Leigh综合征

189

Leigh syndrome

Leigh综合征

190

Leigh syndrome

Leigh综合征

191

Aicardi-Goutieres syndrome 1

Aicardi-Goutieres综合征1

192

Aicardi-Goutieres syndrome 2

Aicardi-Goutieres综合征2

193

Aicardi-Goutieres syndrome 3

Aicardi-Goutieres综合征3

194

Aicardi-Goutieres syndrome 4

Aicardi-Goutieres综合征4

195

Aicardi-Goutieres syndrome 5

Aicardi-Goutieres综合征5

196

Joubert syndrome 3

Joubert 综合征3

197

Joubert syndrome 4

Joubert 综合征4

198

Joubert syndrome 5

Joubert 综合征5

199

Mitochondrial DNA depletion syndrome 1

线粒体DNA缺失综合征1

200

Mitochondrial DNA depletion syndrome 3

线粒体DNA缺失综合征3

201

Mitochondrial DNA depletion syndrome 2

线粒体DNA缺失综合征2

202

Mitochondrial DNA depletion syndrome 4A

线粒体DNA缺失综合征4A

203

Mitochondrial DNA depletion syndrome 4B (MNGIE type)

线粒体DNA缺失综合征4B(MGIE)

204

Mitochondrial DNA depletion syndrome 6

线粒体DNA缺失综合征6

205

Mitochondrial DNA depletion syndrome 8

线粒体DNA缺失综合征8

206

Thiamine metabolism dysfunction syndrome 2

硫胺素代谢功能紊乱综合征2

207

Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)

硫胺素代谢功能紊乱综合征5

208

Rett Syndrome

Rett综合征

209

Rett Syndrome

Rett综合征

210

GLUT1 deficiency syndrome 1

葡萄糖转运体1缺乏综合征

211

GLUT1 deficiency syndrome 2, childhood onset

儿童型GLUT1缺乏综合征2

212

HARP syndrome

HARP综合征

213

Cowden syndrome 5

Cowden综合征5

214

CLOVE syndrome, somatic

CLOVE综合征 体细胞

215

Sj?gren-Larsson syndrome

Sjogren-Larsson综合征

216

Axenfeld-Rieger syndrome, type 3

Aicardi-Goutieres综合征 3

217

CRASH syndrome

CRASH综合征

218

MASA syndrome

MASA综合征

219

?Bardet-Biedl syndrome 14

?Bardet-Biedl综合征14

220

Meckel syndrome 4

Meckel综合征4

221

?Laurence-Moon syndrome

?Laurence-Moon综合征

222

Boucher-Neuhauser syndrome

Boucher-Neuhauser综合征

223

Oliver-McFarlane syndrome

Oliver-McFarlane综合征

224

Allan-Herndon-Dudley syndrome

Allan-Herndon-Dudley 综合征

225

Troyer syndrome

Troyer综合征

226

Mast syndrome

Mast综合征

227

Seckel syndrome 1

Seckel综合征,1

228

Wieacker-Wolff syndrome

Wieacker-Wolff综合征

229

Angelman syndrome

Angelman综合征

230

Sjogren-Larsson syndrome

Sjogren-Larsson综合征

231

Roussy-Levy syndrome

Roussy-Levy综合征

232

Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

线粒体隐性遗传共济失调综合征

233

Blepharophimosis, epicanthus inversus, and ptosis, type 1

睑裂狭小-上睑下垂-倒向型内眦赘皮综合征1

234

Blepharophimosis, epicanthus inversus, and ptosis, type 2

睑裂狭小-上睑下垂-倒向型内眦赘皮综合征2

235

Choreoathetosis, hypothyroidism, and neonatal respiratory distress

舞蹈手足徐动症 甲状腺功能减退症和新生儿呼吸窘迫综合征

236

Lateral meningocele syndrome

脊柱旁脊膜膨出综合征

237

Nephrogenic syndrome of inappropriate antidiuresis

抗利尿不适当肾病综合征

238

Diabetes insipidus, nephrogenic AVPR2

肾性尿崩症AVPR2

239

?Cutaneous telangiectasia and cancer syndrome, familial

?家族性皮肤毛细血管扩张和癌症综合征

240

Pick disease

Pick

241

GM2-Tay-Sachs Disease

GM2-Tay-Sachs

242

GM2-Sandhoff disease 

GM2-Sandhoff

243

Creutzfeldt-Jakob disease

Creutzfeldt-Jakob

244

Gerstmann-Straussler disease

Gerstmann-Straussler

245

Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher

246

Dejerine-Sottas disease

Dejerine-Sottas

247

{Kuru, susceptibility to}

{Kuru病 易感性}

248

{Coronary heart disease, susceptibility to, 6}

{冠心病 易感性6}

249

Gaucher disease 

溶酶体贮积病

250

Chorea, hereditary benign

遗传性良性舞蹈症

251

Wilson disease

肝豆状核变性

252

Subcortical laminar heterotopia

皮层下灰质异位

253

Neuropathy, inflammatory demyelinating

炎性脱髓鞘性神经病

254

Neuropathy, recurrent, with pressure palsies

复发性神经病伴压迫性麻痹

255

Neuropathy, hereditary sensory, type ID

遗传性感觉神经病ID

256

Neuropathy, hereditary sensory, type IIC

遗传性感觉神经病IIC

257

?Neuronopathy, distal hereditary motor, type VB

?远端遗传性运动神经病VB

258

Congenital cataracts, hearing loss, and neurodegeneration

先天性白内障 听力损失和神经退行性疾病

259

Hereditary motor and sensory neuropathy, Okinawa type

遗传性运动和感觉性神经病Okinawa

260

Alzheimer disease 1, familial

阿尔茨海默病1型 家族性

261

Alzheimer disease-2

阿尔茨海默病2

262

{Alzheimer disease, late-onset, susceptibility to}

{阿尔茨海默病 易感性 晚发型}

263

{Parkinson disease, late-onset, susceptibility to}

{帕金森氏病 易感性 晚发型}

264

{Crohn disease-associated growth failure}

{克罗恩病相关性生长障碍}

265

{Epilepsy, idiopathic generalized, susceptibility to, 12}

{特发性泛发性癫痫 易感性12}

266

{Lewy body dementia, susceptibility to}

{路易体痴呆症 易感性}

267

{Dementia, vascular, susceptibility to}

{血管性痴呆}

268

Dementia, frontotemporal, with or without parkinsonism

额颞痴呆伴或不伴帕金森综合症

269

Septooptic dysplasia

Septooptic发育不良

270

Rieger or Axenfeld anomalies

Rieger or Axenfeld异常

271

{Schizophrenia, susceptibility to}

{精神分裂症 易感性}

272

{Neural tube defects, susceptibility to}

{神经管缺陷症 易感性}

273

{Thromboembolism, susceptibility to}

{血栓栓塞 易感性}

274

Thrombophilia due to activated protein C resistance

由于抗活化蛋白C导致的易栓症

275

{Thrombophilia, susceptibility to, due to factor V Leiden}

{由于凝血因子Vleiden突变导致的易栓症 易感性}

276

{Hypertension, susceptibility to}

{高血压,易感性}

277

{Hypertension, essential, susceptibility to}

{原发性高血压 易感性}

278

{Migraine without aura, susceptibility to}

{无先兆偏头痛 易感性}

279

Iris hypoplasia and glaucoma

虹膜发育不全和青光眼

280

Iridogoniodysgenesis, type 1

虹膜发育不全1

281

Homocystinuria, B6-responsive and nonresponsive types

B6反应和无反应型高胱氨酸症

282

Thrombosis, hyperhomocysteinemic

同型半胱氨酸血症性血栓形成

283

Hypogonadotropic hypogonadism 20

特发性低促性腺激素性腺功能减退症20

284

Abetalipoproteinemia

无β脂蛋白血

285

Congenital disorder of glycosylation, type Ia

先天性糖基化障碍Ia

286

GM1-gangliosidosis

GM1神经节苷脂贮积症

287

GM2-AB variant

GM2-AB变体

288

{Transcription of plasminogen activator inhibitor, modulator of}

{纤溶酶原激活剂抑制物转录调节剂}

289

Beta-2-adrenoreceptor agonist, reduced response to

对β2肾上腺素受体激动剂应答降低

290

Microcephaly 2, primary

原发性小头畸型2

291

Microcephaly 1, primary, autosomal recessive

原发性小头畸形1  常染色体隐性遗传

292

{Pregnancy loss, recurrent, susceptibility to, 3}

{复发性流产 易感性3}

293

{Rheumatoid arthritis, progression of}

{类风湿性关节炎的进展}

294

{Rheumatoid arthritis, systemic juvenile}

{系统性青少年型类风湿性关节炎}

295

{Asthma, nocturnal, susceptibility to}

{夜间哮喘 易感性}

296

{Coronary artery spasm 1, susceptibility to}

{冠状动脉痉挛1型 易感性}

297

Supranuclear palsy, progressive

进行性核上性麻痹

298

Supranuclear palsy, progressive atypical

进行性非典型核上性麻痹

299

Alveolar soft-part sarcoma

软组织腺泡状肉瘤

 

 

 

 

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