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HEREDITARY DISEASE DETECTION遗传病检测

孤独症

 

孤独症检测包共包括358个基因,主要包括精神发育迟滞、自闭症、精神分裂症等疾病。


主要疾病如下:

1

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance

精神发育迟滞,X连锁遗传,伴小脑发育不全和特殊性容貌缺陷

2

Mental retardation, X-linked 1/78

精神发育迟滞,X连锁,1/78

3

Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )

精神发育迟滞,X连锁,3型(甲基丙二酸血症和高同型半胱氨酸血症,cblX型)

4

Mental retardation, X-linked 9/44

精神发育迟滞,X连锁,9/44

5

Mental retardation, X-linked 19

精神发育迟滞,X连锁,19

6

Mental retardation, X-linked 21/34

精神发育迟滞,X连锁,21/34

7

Mental retardation, X-linked 29 and others

精神发育迟滞,X连锁,29型,其他

8

Mental retardation, X-linked 30/47

精神发育迟滞,X连锁,30/47

9

Mental retardation, X-linked 41

精神发育迟滞,X连锁,41

10

Mental retardation, X-linked 45

精神发育迟滞,X连锁,45

11

Mental retardation, X-linked 46

精神发育迟滞,X连锁,46

12

Mental retardation, X-linked 58

精神发育迟滞,X连锁,58

13

Mental retardation, X-linked 61

精神发育迟滞,X连锁,61

14

Mental retardation, X-linked 63

精神发育迟滞,X连锁,63

15

Mental retardation, X-linked 72

精神发育迟滞,X连锁,72

16

Mental retardation, X-linked 90

精神发育迟滞,X连锁,90

17

Mental retardation, X-linked 94

精神发育迟滞,X连锁,94

18

Mental retardation, X-linked 97

精神发育迟滞,X连锁,97

19

Mental retardation, X-linked 98

精神发育迟滞,X连锁,98

20

Mental retardation, X-linked 102

精神发育迟滞,X连锁,102

21

Mental retardation, X-linked, FRAXE type

精神发育迟滞,X连锁,FRAXE

22

Mental retardation, X-linked, syndromic 14

精神发育迟滞综合征,X连锁,14

23

Mental retardation, X-linked syndromic 16

精神发育迟滞综合征,X连锁,16

24

Mental retardation, X-linked, syndromic 33

精神发育迟滞综合征,X连锁,33

25

Mental retardation, X-linked syndromic, Christianson type

精神发育迟滞综合征,X连锁,Christianson

26

Mental retardation, X-linked, syndromic, Claes-Jensen type

精神发育迟滞综合征,X连锁,Claes-Jensen

27

Mental retardation syndrome, X-linked, Siderius type

精神发育迟滞综合征,X连锁,Siderius

28

Mental retardation, autosomal dominant 1

精神发育迟滞,常染色体显性遗传,1

29

Mental retardation, autosomal dominant 3

精神发育迟滞,常染色体显性遗传,3

30

Mental retardation, autosomal recessive 3

精神发育迟滞,常染色体隐性遗传,3

31

Mental retardation, autosomal dominant 4

精神发育迟滞,常染色体显性遗传,4

32

Mental retardation, autosomal recessive 5

精神发育迟滞,常染色体隐性遗传,5

33

Mental retardation, autosomal dominant 5

精神发育迟滞,常染色体显性遗传,5

34

Mental retardation, autosomal dominant 6

精神发育迟滞,常染色体显性遗传,6

35

Mental retardation, autosomal recessive 7

精神发育迟滞,常染色体隐性遗传,7

36

Mental retardation, autosomal dominant 7

精神发育迟滞,常染色体显性遗传,7

37

Mental retardation, autosomal dominant 8

精神发育迟滞,常染色体显性遗传,8

38

Mental retardation, autosomal dominant 9

精神发育迟滞,常染色体显性遗传,9

39

?Mental retardation, autosomal dominant 11

?精神发育迟滞,常染色体显性遗传,11

40

Mental retardation, autosomal dominant 13

精神发育迟滞,常染色体显性遗传,13

41

Mental retardation, autosomal dominant 19

精神发育迟滞,常染色体显性遗传,19

42

Mental retardation, autosomal dominant 21

精神发育迟滞,常染色体显性遗传,21

43

Mental retardation, autosomal dominant 23

精神发育迟滞,常染色体显性遗传,23

44

Mental retardation, autosomal dominant 24

精神发育迟滞,常染色体显性遗传,24

45

Mental retardation, autosomal dominant 26

精神发育迟滞,常染色体显性遗传,26

46

Mental retardation, autosomal dominant 30

精神发育迟滞,常染色体显性遗传,30

47

Mental retardation, autosomal dominant 33

精神发育迟滞,常染色体显性遗传,33

48

?Mental retardation, autosomal recessive, 37

?精神发育迟滞,常染色体隐性遗传,37

49

Mental retardation, autosomal recessive 38

精神发育迟滞,常染色体隐性遗传,38

50

Mental retardation, autosomal dominant 38

精神发育迟滞,常染色体显性遗传,38

51

Mental retardation, autosomal dominant 39

精神发育迟滞,常染色体显性遗传,39

52

Mental retardation, autosomal dominant 40

精神发育迟滞,常染色体显性遗传,40

53

Mental retardation, autosomal dominant 41

精神发育迟滞,常染色体显性遗传,41

54

Mental retardation, autosomal dominant 42

精神发育迟滞,常染色体显性遗传,42

55

Mental retardation, autosomal dominant 43

精神发育迟滞,常染色体县性遗传,43

56

Mental retardation, autosomal dominant 44

精神发育迟滞,常染色体显性遗传,44

57

Mental retardation, with or without nystagmus

精神发育迟滞伴或不伴眼球震颤

58

Mental retardation with language impairment and with or without autistic features

精神发育迟滞伴语言障碍和伴或不伴自闭症特征

59

Mental retardation and distinctive facial features with or without cardiac defects

精神发育迟滞和特殊性面部特征伴或不伴心脏缺陷

60

Mental retardation and microcephaly with pontine and cerebellar hypoplasia

精神发育迟滞和小头畸形伴脑桥和小脑发育不全

61

Alpha-thalassemia/mental retardation syndrome

α型地中海贫血/精神发育迟滞综合征

62

Scaphocephaly, maxillary retrusion, and mental retardation

舟状头、上颌后缩和精神发育迟滞

63

?Arthrogryposis, mental retardation, and seizures

?关节弯曲、精神发育迟滞和癫痫

64

Epilepsy, focal, with speech disorder and with or without mental retardation

局灶性癫痫伴语言障碍和伴或不伴精神发育迟滞

65

{Autism susceptibility 1}

{自闭症,易感性,1}

66

{Autism susceptibility 15}

{自闭症,易感性,15}

67

?{Autism susceptibility 16}

?{自闭症,易感性,16}

68

{Autism susceptibility 17}

{自闭症,易感性,17}

69

{Autism, susceptibility to, 18}

{自闭症,易感性,18}

70

{Autism, susceptibility to, 19}

{自闭症,易感性,19}

71

{Autism susceptibility, X-linked 1}

{自闭症,易感性,X连锁遗传,1}

72

{Autism susceptibility, X-linked 2}

{自闭症,易感性,X连锁遗传,2}

73

{Autism susceptibility, X-linked 3}

{自闭症,易感性,X连锁遗传,3}

74

{Autism, susceptibility to, X-linked 4}

{自闭症,易感性,X连锁遗传,4}

75

{Autism, susceptibility to, X-linked 5}

{自闭症,易感性,X连锁遗传,5}

76

{Autism, susceptibility to, X-linked 6}

{自闭症,易感性,X连锁遗传,6 }

77

Tuberous sclerosis-1

结节性硬化症,1

78

Tuberous sclerosis-2

结节性硬化症,2

79

Schizophrenia, neurophysiologic defect in

精神分裂症,神经生理缺陷

80

{Schizophrenia, susceptibility to, 17}

{精神分裂症,易感性,17}

81

{Schizophrenia, susceptibility to}

{精神分裂症,易感性}

82

{Schizophrenia, susceptibility to}

{精神分裂症,易感性}

83

{Schizophrenia, susceptibility to}

{精神分裂症,易感性}

84

{Specific language impairment 5}

{特殊语言障碍5}

85

{Anxiety-related personality traits}

{焦虑相关的人格特质}

86

{Schizoaffective disorder, susceptibility to}

{分裂情感性精神病,易感性}

87

{Obsessive-compulsive disorder}

{强迫症}

88

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

大脑的神经发育障碍有或没有眼睛或心脏异常

89

Cortical dysplasia, complex, with other brain malformations 3

复合物型皮质发育不良伴其他脑畸形,3

90

Cortical dysplasia, complex, with other brain malformations 5

复合物型皮质发育不良伴其他脑畸形,5

91

Glycine encephalopathy

甘氨酸脑病

92

Macrocephaly/autism syndrome

大头畸形/孤独综合症

93

Microcephaly 1, primary, autosomal recessive

原发性小头畸形,1型 ,常染色体隐性遗传

94

Microcephaly 15, primary, autosomal recessive

原发性小头畸形,15型 ,常染色体隐性遗传

95

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6

肌营养不良-抗肌萎缩蛋白病(先天性,伴脑和眼部畸形),A型,6

96

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type B, 6

肌营养不良-抗肌萎缩蛋白病(先天性,伴脑和眼部畸形),B型,6

97

Spastic paraplegia 6, autosomal dominant

痉挛性截瘫,常染色体显性遗传,6

98

Dystonia 24

肌张力障碍,24

99

Charcot-Marie-Tooth disease, type 2D

腓骨肌萎缩症,2D

100

Charcot-Marie-Tooth disease, type 4B1

腓骨肌萎缩症,4B1

101

Spinocerebellar ataxia, autosomal recessive 8

脊髓小脑共济失调,常染色体隐性遗传,8

102

Spinocrebellar ataxia, autosomal recessive 12

脊髓小脑共济失调,常染色体隐性遗传,12

103

Spinocerebellar ataxia, autosomal recessive 20

脊髓小脑共济失调,常染色体隐性遗传,20

104

Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

脊椎干骺端发育不良伴关节松弛,伴或不伴骨折,1

105

Cutis laxa, autosomal dominant 3

皮肤松弛症,常染色体显性遗传,3

106

Cutis laxa, autosomal recessive, type IIA

皮肤松弛症,常染色体隐性遗传,IIA

107

Cortical malformations, occipital

皮质畸形,枕骨

108

Epileptic encephalopathy, early infantile, 1

早期幼儿癫痫性脑病,1

109

Epileptic encephalopathy, early infantile, 2

早期幼儿癫痫性脑病,2

110

Epileptic encephalopathy, early infantile, 4

早期幼儿癫痫性脑病,4

111

Epileptic encephalopathy, early infantile, 5

早期幼儿癫痫性脑病,5

112

Epileptic encephalopathy, early infantile, 7

早期幼儿癫痫性脑病,7

113

Epileptic encephalopathy, early infantile, 9

早期幼儿癫痫性脑病,9

114

Epileptic encephalopathy, early infantile, 11

早期幼儿癫痫性脑病,11

115

Epileptic encephalopathy, early infantile, 12

早期幼儿癫痫性脑病,12

116

Epileptic encephalopathy, early infantile, 13

早期幼儿癫痫性脑病,13

117

Epileptic encephalopathy, early infantile, 16

早期幼儿癫痫性脑病,16

118

Epileptic encephalopathy, early infantile, 17

早期幼儿癫痫性脑病,17

119

Epileptic encephalopathy, early infantile, 24

早期幼儿癫痫性脑病,24

120

Epileptic encephalopathy, early infantile, 28

早期幼儿癫痫性脑病,28

121

Epileptic encephalopathy, early infantile, 30

早期幼儿癫痫性脑病,30

122

Epileptic encephalopathy, early infantile, 34

早期幼儿癫痫性脑病,34

123

Epileptic encephalopathy, early infantile, 39

早期幼儿癫痫性脑病,39

124

Epileptic encephalopathy, early infantile, 43

早期幼儿癫痫性脑病,43

125

Epileptic encephalopathy, early infantile, 45

早期幼儿癫痫性脑病,45

126

Epilepsy, X-linked, with variable learning disabilities and behavior disorders

癫痫,X连锁遗传,伴可变性学习障碍和行为障碍

127

Epileptic encephalopathy, childhood-onset

癫痫性脑病,儿童期

128

Myoclonic epilepsy, infantile, familial

肌阵挛性癫痫,家族性婴儿型

129

{Epilepsy, idiopathic generalized, susceptibility to, 14}

{特发性泛发性癫痫,易感性,14}

130

Microcephaly, seizures, and developmental delay

小头畸形、癫痫和发展迟缓

131

Primary aldosteronism, seizures, and neurologic abnormalities

原发性醛固酮增多症、癫痫和神经系统异常

132

{Epilepsy, childhood absence, susceptibility to, 6}

{儿童失神癫痫,易感性,6}

133

{Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}

{泛发性癫痫伴热性惊厥附加症,5型,易感性}

134

Myoclonic-atonic epilepsy

Myoclonic-atonic癫痫

135

Epilepsy, familial focal, with variable foci

病灶多变的家族性局灶性癫痫

136

{Epilepsy, familial temporal lobe, 7}

{家族性颞叶癫痫,7}

137

{Epilepsy, juvenile myoclonic, susceptibility to}

{青少年肌阵挛性癫痫,易感性}

138

{Epilepsy, idiopathic generalized, susceptibility to, 6}

{特发性泛发性癫痫,6型,易感性}

139

{Epilepsy, idiopathic generalized, 10}

{特发性泛发性癫痫,10}

140

Cardiac arrhythmia, ankyrin-B-related

ankyrin-B相关性心律失常

141

Cardiomyopathy, dilated, 3B

扩张型心肌病,3B

142

Becker muscular dystrophy

Becker型肌营养不良症

143

Duchenne muscular dystrophy

Duchenne型肌营养不良症

144

Parkinson disease, juvenile, type 2

青少年型帕金森氏病,2

145

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

婴儿型肌张力低下,伴精神运动发育迟缓和特性相,1

146

Parkinsonism-dystonia, infantile

婴儿型帕金森综合症-肌张力障碍

147

Frontometaphyseal dysplasia 1

Frontometaphyseal发育不良,1

148

Left ventricular noncompaction 7

左心室心肌致密化不全,7

149

Sinoatrial node dysfunction and deafness

窦房结功能障碍和耳聋

150

Deafness, autosomal dominant 2A

耳聋,常染色体显性遗传,2A

151

Deafness, autosomal recessive 22

耳聋,常染色体隐性遗传,22

152

?Deafness, autosomal recessive 97

?耳聋,常染色体隐性遗传,97

153

Auditory neuropathy, autosomal dominant, 1

听神经病,常染色体显性遗传,1

154

Neuropathy, hereditary sensory, type IIC

遗传性感觉神经病,IIC

155

Neuropathy, distal hereditary motor, type VA

远端遗传性运动神经病,VA

156

Hereditary motor and sensory neuropathy, type IIc

遗传性运动和感觉性神经病,IIc

157

?Peripheral neuropathy, myopathy, hoarseness, and hearing loss

?周围神经病、肌病、声嘶和听力损失

158

Speech-language disorder-1

语言失调,1

159

Cerebral palsy, spastic quadriplegic, 2

脑性瘫痪,痉挛性四肢瘫型,2

160

Lissencephaly 1

无脑回畸形,1

161

Lissencephaly 4 (with microcephaly)

无脑回畸形,4型(伴小头畸形)

162

Holoprosencephaly 7

前脑无裂畸形,7

163

Hydrocephalus due to congenital stenosis of aqueduct of sylvius

先天性脑积水由于外侧导水管狭窄

164

Metachromatic leukodystrophy

异染性脑白质营养不良

165

Adrenoleukodystrophy

肾上腺脑白质营养不良

166

Neurodegeneration with brain iron accumulation 2B

神经退行性疾病伴脑铁沉积,2B

167

Retinal dystrophy, early-onset, with or without pituitary dysfunction

早发型视网膜营养性萎缩症伴或不伴垂体功能紊乱

168

?Aniridia 2

?无虹膜

169

Aarskog-Scott syndrome

Aarskog-Scott综合征

170

Advanced sleep phase syndrome, familial, 1

Advanced sleep phase 综合征,家族性1

171

Alazami syndrome

Alazami综合征

172

Angelman syndrome

Angelman综合征

173

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

Antley-Bixler综合征不伴外生殖器畸形或病态类固醇合成

174

Apert syndrome

Apert综合征(即尖头并指综合征)

175

Athabaskan brainstem dysgenesis syndrome

Athabaskan脑干发育不良综合征

176

Bosch-Boonstra-Schaaf optic atrophy syndrome

Bosch-Boonstra-Schaaf视神经萎缩综合征

177

Bosley-Salih-Alorainy syndrome

Bosley-Salih-Alorainy综合征

178

Brunner syndrome

Brunner 综合征

179

CAPOS syndrome

CAPOS综合征

180

CHARGE syndrome

CHARGE综合征

181

?CHARGE syndrome

CHARGE综合征

182

Coffin-Lowry syndrome

Coffin-Lowry综合征

183

Coffin-Siris syndrome 1

Coffin-Siris 综合征 1

184

Coffin-Siris syndrome 3

Coffin-Siris 综合征 3

185

Coffin-Siris syndrome 4

Coffin-Siris 综合征 4

186

Cohen syndrome

Cohen综合征

187

CRASH syndrome

CRASH综合征

188

Desanto-Shinawi syndrome

Desanto-Shinawi综合征

189

Dias-Logan syndrome

Dias-Logan综合征

190

DOOR syndrome

DOOR综合征

191

Dravet syndrome

Dravet综合征

192

FG syndrome 4

FG综合征,4

193

Fraser syndrome

Fraser综合征

194

Glass syndrome

Glass综合征

195

Helsmoortel-van der Aa syndrome

Helsmoortel-van der Aa综合征

196

Hennekam lymphangiectasia-lymphedema syndrome 2

Hennekam lymphangiectasia-lymphedema 综合征 2

197

Joubert syndrome 4

Joubert综合征,4

198

Kabuki syndrome 2

Kabuki综合征,2

199

Kaufman oculocerebrofacial syndrome

Kaufman型脑---骨骼综合征

200

KBG syndrome

KBG综合征

201

Kleefstra syndrome

Kleefstra综合征

202

Lamb-Shaffer syndrome

Lamb-Shaffer综合征

203

Lujan-Fryns syndrome

Lujan-Fryns综合征

204

Luscan-Lumish syndrome

Luscan-Lumish综合征

205

Marshall syndrome

Marshall综合征

206

MASA syndrome

MASA综合征

207

Mowat-Wilson syndrome

Mowat-Wilson综合征

208

Myhre syndrome

Myhre综合征

209

Nance-Horan syndrome

Nance-Horan综合征

210

Opitz GBBB syndrome, type I

Opitz GBBB综合征,I

211

Partington syndrome

Partington综合征

212

Pfeiffer syndrome

Pfeiffer综合征

213

Phelan-McDermid syndrome

Phelan-McDermid综合征

214

Pitt-Hopkins syndrome

Pitt-Hopkins综合征

215

Poretti-Boltshauser syndrome

Poretti-Boltshauser综合征

216

Prader-Willi syndrome

Prader-Willi综合征

217

Primrose syndrome

Primrose综合征

218

Proud syndrome

Proud综合征

219

Renpenning syndrome

Renpenning综合征

220

Rett syndrome, congenital variant

Rett综合征,先天性变异型

221

Rubinstein-Taybi syndrome

Rubinstein-Taybi综合征

222

Saethre-Chotzen syndrome

Saethre-Chotzen综合征

223

Schaaf-Yang syndrome

Schaaf-Yang 综合征

224

Schuss-Hoeijmakers sydnrome

Schuss-Hoeijmakers 综合征

225

SESAME syndrome

SESAME综合征

226

Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz综合征

227

Smith-Magenis syndrome

Smith-Magenis综合征

228

Sotos syndrome 1

Sotos综合征,1

229

Sotos syndrome 2

Sotos综合征,2

230

Stickler syndrome, type II

Stickler综合征,II

231

Temtamy syndrome

Temtamy综合征

232

Timothy syndrome

Timothy综合征

233

Van Maldergem syndrome 2

Van Maldergem 综合征,2

234

Warburg micro syndrome 4

Warburg Micro综合征,4

235

White-Sutton syndrome

White-Sutton 综合征

236

Wiedemann-Steiner syndrome

Wiedemann-Steiner综合征

237

Witteveen-Kolk syndrome

Witteveen-Kolk 综合征

238

Fragile X syndrome

脆性X染色体综合征

239

Cerebral creatine deficiency syndrome 1

大脑肌酸缺乏综合征,1

240

Cerebral creatine deficiency syndrome 3

大脑肌酸缺乏综合征,3

241

Cornelia de Lange syndrome 1

德朗热综合征,1

242

Cornelia de Lange syndrome 4

德朗热综合征,4

243

Multiple endocrine neoplasia 1

多发性内分泌腺肿瘤综合征,1

244

Multiple congenital anomalies-hypotonia-seizures syndrome 1

多发性先天性畸形-张力减退-癫痫综合征,1

245

Velocardiofacial syndrome

腭心面部综合征

246

Otopalatodigital syndrome, type I

耳腭指综合征,I

247

Otopalatodigital syndrome, type II

耳腭指综合征,II

248

Basal cell nevus syndrome

基底细胞痣综合征

249

Crouzon syndrome

克鲁宗综合征

250

Wolfram-like syndrome, autosomal dominant

Wolfram综合征,常染色体显性遗传

251

Mental retardation-hypotonic facies syndrome, X-linked

面压过低的精神发育迟缓综合征,X连锁遗传

252

Chromosome 5q14.3 deletion syndrome

染色体5q14.3缺失综合征

253

Renal cysts and diabetes syndrome

肾囊肿和糖尿病综合征

254

Myasthenic syndrome, congenital, 6, presynaptic

先天性突触前肌无力综合征,6

255

Central hypoventilation syndrome, congenital

先天性中枢性低通气综合征

256

Microphthalmia, syndromic 2

小眼畸形综合征,2

257

Microphthalmia, syndromic 14

小眼畸形综合征,14

258

Ehlers-Danlos syndrome, progeroid type, 2

早衰型Ehlers-Danlos综合征,2

259

Long QT syndrome 4

QT综合征,4

260

Wrinkly skin syndrome

皱皮综合征

261

Microphthalmia, syndromic 5

综合征型小眼畸形,5

262

?Prune belly syndrome

?Prune belly 综合征

263

?Microphthalmia, syndromic 1

?综合征型小眼畸形,1

264

{Dravet syndrome, modifier of}

{Dravet综合征,修饰型}

265

{Rhabdoid tumor predisposition syndrome 2}

{横纹样瘤易感综合征,2}

266

46XY sex reversal 9

46XY性反转,9

267

Craniosynostosis 3

Craniosynostosis3

268

D-glyceric aciduria

D-甘油酸尿症

269

5-fluorouracil toxicity

5-氟尿嘧啶毒性

270

Hyperbilirubinemia, Rotor type, digenic

高胆红素血症,Rotor

271

Hyperprolinemia, type I

高脯氨酸血症,I

272

Hyperaldosteronism, familial, type IV

高醛甾酮症、家族、IV

273

Succinic semialdehyde dehydrogenase deficiency

琥珀酸半醛脱氢酶缺乏病

274

Pseudohypoaldosteronism, type IIE

假性醛固酮减少症,IIE

275

Hypothyroidism, congenital, nongoitrous, 6

先天性非甲状腺肿的甲状腺功能减退症,6

276

Congenital disorder of glycosylation, type IId

先天性糖蛋白糖基化缺陷

277

Molybdenum cofactor deficiency C

钼辅脢缺乏症,C

278

Adenylosuccinase deficiency

腺苷酸琥珀酸酶缺乏

279

Branched-chain ketoacid dehydrogenase kinase deficiency

支链α型酮酸脱氢酶缺乏

280

Glomerulosclerosis, focal segmental, 2

局灶节段性肾小球硬化症,2

281

{Ovarian cancer, somatic}

卵巢癌,体细胞

282

Ectodermal dysplasia 1, hypohidrotic, X-linked

少汗性外胚层发育不良,1型,X连锁遗传

283

Fibrochondrogenesis 1

纤维软骨增生,1

284

Neurofibromatosis, type 1

神经纤维瘤病,1

285

{TSC2 angiomyolipomas, renal, modifier of}

{TSC2肾血管平滑肌脂肪瘤,修饰型}

286

Facial paresis, hereditary congenital, 3

面部麻痹性痴呆,遗传性先天性,3

287

Congenital contractures of the limbs and face, hypotonia, and developmental delay

四肢和面部先天性挛缩,肌张力低下,和发育迟缓

288

Corneal dystrophy, Fuchs endothelial, 3

角膜营养不良,Fuchs内皮营养不良,3

289

Craniofacial-skeletal-dermatologic dysplasia

颅骨面部--皮肤发育不良

290

Linear skin defects with multiple congenital anomalies 1

线性皮肤缺损伴多发性先天性畸形,1

291

Ichthyosis, X-linked

鱼鳞病,X连锁遗传

292

Tooth agenesis, selective, X-linked 1

选择性牙发育不全,X连锁遗传,1

293

Glanzmann thrombasthenia

血小板无力症

294

Rhizomelic chondrodysplasia punctata, type 1

肢根斑点状软骨发育异常,1

295

Dyskinesia, limb and orofacial, infantile-onset

肢体和面部、运动障碍 婴儿早期

296

?Spondylocostal dysostosis 3, autosomal recessive

?脊椎肋骨发育不全,常染色体隐性遗传,3

297

Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type

Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya

298

Alpha-thalassemia myelodysplasia syndrome, somatic

α-地中海贫血 脊髓发育不良综合症,体细胞

299

Acrodysostosis 2, with or without hormone resistance

伴或不伴随抗激素性肢端骨发育不全,2

300

Ataxia-oculomotor apraxia 4

伴眼球运动不能共济失调,4

301

Phenylketonuria

苯丙酮尿症

302

Corpus callosum, partial agenesis of

部分性胼胝体发育不全

303

Adult i phenotype without cataract

成人i表型不伴白内障

304

?Microhydranencephaly

?微积水性无脑

305

?Mitochondrial complex III deficiency, nuclear type 7

?线粒体复合物III缺乏,核7

306

{Ventricular fibrillation, paroxysmal familial, 2}

{家族性阵发性心室颤动,2}

307

Craniosynostosis 6

{颅缝早闭,6}

308

{Essential tremor, susceptibility to}

{特发性震颤,易感性}

309

{Moyamoya disease 2, susceptibility to}

{烟雾病,2型,易感性}

310

{Lumbar disc herniation, susceptibility to}

{腰椎间盘突出症,易感性}

311

{Nicotine dependence, protection against}

{预防尼古丁依赖}

 

 

 

 

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