意向客人经常问“优妈,什么是PGD和PGS啊?做哪个好?”世界上第一例胚胎植入前遗传学筛选是由Handyside,Kontogianni 和Winston三位教授于1988年在英国伦敦的哈默史密斯医院(Hammersmith Hospital)完成。发展到现今胚胎植入前染色体遗传学筛选已经可以成功筛选出200多种疾病的囊胚。

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PGD其实是Preimplantation genetic diagnosis的缩写,翻译过来的意思是胚胎植入前遗传学诊断。而PGS是preimplantation genetic screening的缩写,翻译过来的意思是胚胎植入前遗传学筛选。简单来说PGD其实就是俗话说的5对染色体筛选,而PGS就是23对染色体筛选。

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像常见的唐氏综合征、慢性骨髓细胞瘤、杜氏肌营养不良症(DMD)、特纳氏综合征、脆性X综合征、急性髓系白血病等疾病都可以通过胚胎植入前遗传学筛选把患病的囊胚淘汰以避免家庭悲剧发生。筛选分为5对染色体筛选和23对染色体筛选。5对染色体筛选所用时间短所以可以鲜胚当月移植,而23对染色体筛选时间长,对于中国的患者至少要回国休息一个月才能回泰国再做移植。当然费用23对染色体也要比5对染色体贵。

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5对染色体能做筛选什么遗传疾病呢?如下

13号染色体

一三体综合,胎儿多发畸形,多数出生三年内夭折。

引起乳腺癌和卵巢癌,耳聋,肝脏及神经系统疾病。

18号染色体

爱德华综合症,表现为多个器官缺陷,大多出生一年内死亡。常引起尼曼匹克病(贫血,肝脾、淋巴结肿大,消化不良和神经缺陷,胰脏病)。

21号染色体

唐氏综合症

X

杜氏肌营养不良症(DMD)

特纳氏综合症

脆性X综合症

Y

急性髓系白血病


23对染色体能筛选的疾病多达200多项,优妈会在文章最后罗列。但是并不是说23对染色体筛选就比5对好,筛选对囊胚是有损伤的,所以要量力而行,如果促排取卵少,就不建议做23对,因为很有可能一做23对染色体筛选就没有囊胚做植入了。5对染色体完全能满足大部分的家庭的情况,对于非不孕不育只是想生儿子的家庭5对染色体筛选足够了。

最后附上23对染色体能筛选的疾病:

1.3-β-羟化类固醇脱氢酶 II 型缺乏症(3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency)

2.3-羟基-3-甲基戊二酰- 辅酶 A 裂解酶缺乏症(3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency)

3.3-甲基巴豆酰辅酶 A 羧化酶 1 型 缺乏症(3-Methylcrotonyl-CoA Carboxylase 1 Deficiency)

4.3-甲基巴豆酰辅酶 A 羧化酶 2 型 缺乏症(3-Methylcrotonyl-CoA Carboxylase 2 Deficiency)

5.3-磷酸甘油酸脱氢酶缺乏症(3-Phosphoglycerate Dehydrogenase Deficiency)

6.6-丙酮酰-丙酮酰四氢合成酶(PTPS) 缺乏症(6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency)

7.无β脂蛋白血症(Abetalipoproteinemia)

8.1B 型软骨成长不全(Achondrogenesis, Type 1B)

9.CNGB3 蛋白连带全色盲(Achromatopsia, CNGB3-Related)

10.肠病性肢端皮炎(Acrodermatitis Enteropathica)

11.TRMU 连带小儿急性肝功能衰竭(Acute Infantile Liver Failure, TRMU-Related)

12.酰基辅酶 A 氧化酶 I 缺乏症(Acyl-CoA Oxidase I Deficiency)

13.伴 X 染色体肾上腺脑白质失养症(Adrenoleukodystrophy, X-Linked)

14.伴发基底核钙化的脑病(Aicardi-Goutières Syndrome)

15.α-甘露糖苷病(Alpha-Mannosidosis)

16.α-地中海贫血症(Alpha-Thalassemia)

17.α-地中海贫血智力障碍综合症(Alpha-Thalassemia Intellectual Disability Syndrome)

18.COL4A3 连带的奥尔波特综合征(Alport Syndrome, COL4A3-Related)

19.COL4A4 连带的奥尔波特综合征(Alport Syndrome, COL4A4-Related)

20.伴 X 染色体奥尔波特综合征(Alport Syndrome, X-Linked)

21.阿尔斯特雷姆综合征Alstrom Syndrome)

22.安德曼综合征(Andermann Syndrome)

23.释义精氨琥珀酸裂解酶缺乏症(Argininosuccinate Lyase Deficiency)

24.芳香化酶缺乏症(Aromatase Deficiency)

25.天冬酰胺合成酶缺乏症(Asparagine Synthase Deficiency)

26.天冬氨葡糖氨尿症(Aspartylglycosaminuria)

27.共济失调与维他命 E 缺乏症(Ataxia with Vitamin E Deficiency)

28.共济失调毛细血管扩张(Ataxia-Telangiectasia)

29.自闭症,癫痫症,以及关节挛缩症0Autism Spectrum, Epilepsy and Arthrogryposis)

30.1 型自身免疫多腺体综合征(Autoimmune Polyglandular Syndrome, Type 1)

31.沙勒瓦-沙格奈河流域常染色体隐性痉挛性共济失调(Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay)

32.BBS1 连带巴比二氏综合症(Bardet-Biedl Syndrome, BBS1-Related)

33.BBS10 连带巴比二氏综合症(Bardet-Biedl Syndrome, BBS10-Related)

34.BBS12 连带巴比二氏综合症(Bardet-Biedl Syndrome, BBS12-Related)

35.BBS2 连带巴比二氏综合症(Bardet-Biedl Syndrome, BBS2-Related)

36.CIITA 连带裸淋巴细胞综合征(Bare Lymphocyte Syndrome, CIITA-Related)

37.BSND 连带巴特综合征(Bartter Syndrome, BSND-Related)

38.CLN3 连带贝敦氏症(Batten Disease, CLN3-Related)

39.β-血红蛋白病(Beta-Hemoglobinopathies)

40.β-酮硫解酶缺乏症(Beta-Ketothiolase Deficiency)

41.双侧额顶骨多小脑回畸形(Bilateral Frontoparietal Polymicrogyria)

42.生物素酰胺酶缺乏症(Biotinidase Deficiency)

43.布卢姆综合征(Bloom Syndrome)

44.海绵状脑白质营养不良症(Canavan Disease)

45.I 型氨甲酰磷酸合成酶缺乏症(Carbamoyl Phosphate Synthetase I Deficiency)

46.肉毒碱缺乏症(Carnitine Deficiency)

47.IA 型肉毒碱棕榈酰转移酶缺乏症(Carnitine Palmitoyltransferase IA Deficiency)

48.II 型肉毒碱棕榈酰转移酶缺乏症(Carnitine Palmitoyltransferase II Deficiency)

49.卡彭特综合征(Carpenter Syndrome)

50.软骨毛发发育不全(Cartilage-Hair Hypoplasia)

51.脑腱性黄色瘤病(Cerebrotendinous Xanthomatosis)

52.伴 X 染色体失聪性进行性神经病性肌萎缩(Charcot-Marie-Tooth Disease with Deafness, X-linked)

53.4D 型进行性神经病性肌萎缩(Charcot-Marie-Tooth Disease, Type 4D)

54.舞蹈病棘红细胞增多症(Choreoacanthocytosis)

55.无脉络膜症(Choroideremia)

56.CYBA 连带慢性肉芽肿性疾病(Chronic Granulomatous Disease, CYBA-Related)

57.伴 X 染色体慢性肉芽肿性疾病(Chronic Granulomatous Disease, X-Linked)

58.RPGRIP1L 连带纤毛类疾病(Ciliopathies, RPGRIP1L-Related )

59.维生素 P 缺乏症(Citrin Deficiency)

60.1 型瓜氨酸血症(Citrullinemia, Type 1)

61.科恩综合征(Cohen Syndrome)

62.结合性丙二酸及甲基丙二酸血症(Combined Malonic and Methylmalonic Aciduria)

63.1 型结合性氧化磷酸化缺乏症(Combined Oxidative Phosphorylation Deficiency 1)

64.3 型结合性氧化磷酸化缺乏症(Combined Oxidative Phosphorylation Deficiency 3)

65.2 型结合性脑垂体激素缺乏症(Combined Pituitary Hormone Deficiency-2)

66.先天性肾上腺增生症, 17-α-羟化酶缺乏症(Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency)

67.先天性低巨核血小板减少症(Congenital Amegakaryocytic Thrombocytopenia)

68.1A 型, PMM2 连带,先天性糖基化反应失调(Congenital Disorder of Glycosylation, Type 1A, PMM2-Related)

69.1B 型先天性糖基化反应失调(Congenital Disorder of Glycosylation, Type 1B)

70.1C 型先天性糖基化反应失调(Congenital Disorder of Glycosylation, Type 1C)

71.先天性芬兰肾病(Congenital Finnish Nephrosis)

72.KCNJ11 连带先天性高胰岛素血症(Congenital Hyperinsulinism, KCNJ11-Related)

73.先天性缺汗症(CIPA)(Congenital Insensitivity to Pain with Anhidrosis (CIPA)

74.CHRNE 连带先天性肌无力综合征(Congenital Myasthenic Syndrome, CHRNE-Related)

75.RAPSN 连带先天性肌无力综合征(Congenital Myasthenic Syndrome, RAPSN-Related)

76.HAX1 连带先天性嗜中性白血球减少症(Congenital Neutropenia, HAX1-Related)

77.VPS45 连带先天性嗜中性白血球减少症(Congenital Neutropenia, VPS45-Related)

78.角膜失养症和感音性失聪症(Corneal Dystrophy and Perceptive Deafness)

79.皮质酮甲基氧化酶缺乏症(Corticosterone Methyloxidase Deficiency)

80.考斯特夫综合征( 3 型 3-甲基戊烯二酸尿症)[Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3)]

81.CRB1 连带视网膜营养障碍(CRB1-Related Retinal Dystrophies)

82.肌酸转运体蛋白缺乏症(伴 X 染色体 1 型脑肌酸缺陷综合征)[Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, XLinked)]

83.囊肿性纤维化症(Cystic Fibrosis)

84.胱氨酸病(Cystinosis)

85.D-双官能团蛋白质缺乏症(D-Bifunctional Protein Deficiency)

86.失聪, 77 型常染色体隐性性状(Deafness, Autosomal Recessive 77)

87.杜氏营养不良症/贝克型肌营养不良症(Duchenne/Becker Muscular Dystrophy)

88.RTEL1 连带先天性胰岛功能不良(Dyskeratosis Congenita, RTEL1-Related)

89.COL7A1 连带营养不良性大疱性表皮松解症(Dystrophic Epidermolysis Bullosa, COL7A1-Related)

90.VIIC 型埃勒斯-当洛斯综合征(Ehlers-Danlos Syndrome, Type VIIC)

91.EVC 连带埃利伟氏综合症(Ellis-van Creveld Syndrome, EVC-Related)

92.伴 X 染色体 1 型肌营养不良(Emery-Dreifuss Muscular Dystrophy 1, X-Linked)

93.增强型 S-斯昆综合征(Enhanced S-Cone Syndrome)

94.乙基丙二酸脑病变(Ethylmalonic Encephalopathy)

95.法布瑞氏症(Fabry Disease)

96.IX 因子缺乏症(Factor IX Deficiency)

97.XI 因子缺乏症(Factor XI Deficiency)

98.家族性自主神经功能异常(Familial Dysautonomia)

99.LDLR 连带家族性高胆固醇血症(Familial Hypercholesterolemia, LDLR-Related)

100.LDLRAP1 连带家族性高胆固醇血症(Familial Hypercholesterolemia, LDLRAP1-Related)

101.ABCC8 连带家族性胰岛素过多症(Familial Hyperinsulinism, ABCC8-Related)

102.家族性地中海发热(Familial Mediterranean Fever)

103.AQP2 相关家族性肾原性尿崩症(Familial Nephrogenic Diabetes Insipidus, AQP2-Related)

104.A 类范科尼贫血症(Fanconi Anemia, Group A)

105.C 类范科尼贫血症(Fanconi Anemia, Group C)

106.G 类范科尼贫血症(Fanconi Anemia, Group G)

107.X 染色体易损综合征(Fragile X Syndrome)

108.延胡索酸酶缺乏症(Fumarase Deficiency)

109.半乳糖激酶缺乏症 ( II 型半乳糖血症)[ Galactokinase Deficiency (Galactosemia, Type II)

110.半乳糖血症(Galactosemia)

111.高雪氏症( Gaucher Disease)

112.吉特曼症候群(Gitelman Syndrome)

113.1 型戊二酸血症(Glutaric Acidemia, Type 1)

114.2A 型戊二酸血症(Glutaric Acidemia, Type 2A)

115.2C 型戊二酸血症(Glutaric Acidemia, Type 2C)

116.AMT 连带氨基乙酸脑病变(Glycine Encephalopathy, AMT-Related)

117.GLDC 连带氨基乙酸脑病变(Glycine Encephalopathy, GLDC-Related)

118.1a 型糖原存储疾病(Glycogen Storage Disease, Type 1a)

119.1b 型糖原存储疾病(Glycogen Storage Disease, Type 1b)

120.2 型糖原存储疾病( 庞贝氏症)[Glycogen Storage Disease, Type 2 (Pompe Disease)]

121.3 型糖原存储疾病(Glycogen Storage Disease, Type 3)

122.4 型糖原存储疾病(Glycogen Storage Disease, Type 4)

123.5 型糖原存储疾病 ( 麦卡德尔病)[Glycogen Storage Disease, Type 5 (McArdle Disease)]

124.7 型糖原存储疾病(Glycogen Storage Disease, Type 7)

125.纤细综合征(GRACILE Syndrome)

126.胍基乙酸甲基转移酶缺乏症(Guanidinoacetate Methyltransferase Deficiency)

127.2A 型血色沉着病(Hemochromatosis Type 2A)

128.3 型 TFR2 连带血色沉着病(Hemochromatosis, Type 3, TFR2-Related)

129.MPV17 连带肝脑线粒体 DNA 衰竭综合征(Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related)

130.遗传性果糖不耐症(Hereditary Fructose Intolerance)

131.49 型遗传性痉挛性截瘫(Hereditary Spastic Paraparesis, Type 49)

132.HPS1 连带赫曼斯基-普德拉克综合征(Hermansky-Pudlak Syndrome, HPS1-Related)

133.HPS3 连带赫曼斯基-普德拉克综合征(Hermansky-Pudlak Syndrome, HPS3-Related)

134.羧化全酶合成酶缺乏症(Holocarboxylase Synthetase Deficiency)

135.亚甲基四氢叶酸还原酶缺乏致高胱胺酸尿症(Homocystinuria due to Deficiency of MTHFR)

136.CBS 连带高胱胺酸尿症(Homocystinuria, CBS-Related)

137.cblE 高胱胺酸尿症(Homocystinuria, Type cblE)

138.脑积水综合征(Hydrolethalus Syndrome)

139.高鸟胺基酸血症-高血氨症-高瓜氨酸尿症( HHH 综合征)[Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome)]

140.伴 X 染色体先天性外胚层发育不全无汗综合征(Hypohidrotic Ectodermal Dysplasia, X-Linked)

141.ALPL 连带低磷酸酯酶症(Hypophosphatasia, ALPL-Related)

142.2 型包涵体肌病(Inclusion Body Myopathy 2)

143.婴儿大脑和小脑萎缩症(Infantile Cerebral and Cerebellar Atrophy)

144.异戊酸血症(Isovaleric Acidemia)

145.2 型朱伯特综合症/ 2 型梅克尔综合症(Joubert Syndrome 2/Meckel Syndrome 2)

146.伴 X 染色体青少年视网膜劈裂症(Juvenile Retinoschisis, X-Linked)

147.婴儿遗传性脑白质萎缩症(Krabbe Disease)

148.1 型板层状鱼鳞病(Lamellar Ichthyosis, Type 1)

149.2 型莱伯氏先天性黑蒙症(Leber Congenital Amaurosis 2)

150.CEP290 型莱伯氏先天性黑蒙症(Leber Congenital Amaurosis, Type CEP290)

151.LCA5 型莱伯氏先天性黑蒙症(Leber Congenital Amaurosis, Type LCA5)

152.RDH12 型莱伯氏先天性黑蒙症(Leber Congenital Amaurosis, Type RDH12)

153.法国-加拿大型亚急性坏死性脑脊髓病(Leigh Syndrome, French-Canadian Type)

154.1 型致命先天挛缩综合征(Lethal Congenital Contracture Syndrome 1)

155.伴白质消失性脑白质病变症(Leukoencephalopathy with Vanishing White Matter)

156.2A 型四肢带状肌营养不良(Limb-Girdle Muscular Dystrophy, Type 2A)

157.2B 型四肢带状肌营养不良(Limb-Girdle Muscular Dystrophy, Type 2B)

158.2C 型四肢带状肌营养不良(Limb-Girdle Muscular Dystrophy, Type 2C)

159.2D 型四肢带状肌营养不良(Limb-Girdle Muscular Dystrophy, Type 2D)

160.2E 型四肢带状肌营养不良(Limb-Girdle Muscular Dystrophy, Type 2E)

161.2I 型四肢带状肌营养不良(Limb-Girdle Muscular Dystrophy, Type 2I)

162.脂酰脱氢酶缺乏症(二氢硫辛酰胺脱氢酶缺乏症)[Lipoamide Dehydrogenase Deficiency (Dihydrolipoamide Dehydrogenase Deficiency)]

163.类脂质性肾上腺增生症(Lipoid Adrenal Hyperplasia)

164.治疗脂蛋白脂酶缺乏症(Lipoprotein Lipase Deficiency)

165.长链 3 型-羟烷基-辅酶 A 脱氢酶缺乏症(Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency)

166.赖氨酸尿性蛋白质不耐受症(Lysinuric Protein Intolerance)

167.1A 型枫糖浆尿症(Maple Syrup Urine Disease, Type 1A)

168.1B 型枫糖浆尿症(Maple Syrup Urine Disease, Type 1B)

169.1 型梅克尔-格鲁贝尔综合征(Meckel-Gruber Syndrome, Type 1)

170.中链酰基辅酶 A 脱氢酶缺乏症(Medium Chain Acyl-CoA Dehydrogenase Deficiency)

171.脑白质病(Megalencephalic Leukoencephalopathy with Subcortical Cysts)

172.门克斯综合征(Menkes Syndrome)

173.ARSA 连带异染性脑白质营养不良(Metachromatic Leukodystrophy, ARSA-Related)

174.PSAP 连带异染性脑白质营养不良(Metachromatic Leukodystrophy, PSAP-Related)

175.cblC 型甲基丙二酸血症和高胱氨酸尿症(Methylmalonic Aciduria and Homocystinuria, Type cblC)

176.cblD 型甲基丙二酸血症和高胱氨酸尿症(Methylmalonic Aciduria and Homocystinuria, Type cblD)

177.MMAA 连带甲基丙二酸血症(Methylmalonic Aciduria, MMAA-Related)

178.MMAB 连带甲基丙二酸血症(Methylmalonic Aciduria, MMAB-Related)

179.mut(0)型甲基丙二酸血症 [Methylmalonic Aciduria, Type mut(0)]

180.VSX2 连带小眼畸形症/无眼畸形症(Microphthalmia/Anophthalmia, VSX2-Related)

181.ACAD9 连带 1 型线粒体缺乏综合征(Mitochondrial Complex 1 Deficiency, ACAD9-Related)

182.NDUFAF5 连带 1 型线粒体缺乏综合征(Mitochondrial Complex 1 Deficiency, NDUFAF5-Related)

183.NDUFS6 连带 1 型线粒体缺乏综合征(Mitochondrial Complex 1 Deficiency, NDUFS6-Related)

184.线粒体肌病和铁粒幼细胞贫血症(MLASA1)[Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1)]

185.II/IIIA 型粘脂贮积病(Mucolipidosis II/IIIA)

186.III 型γ粘脂贮积病(Mucolipidosis III gamma)

187.IV 型粘脂贮积病(Mucolipidosis, Type IV)

188.I 型黏多糖贮积症 ( 贺勒氏综合征)[Mucopolysaccharidosis, Type I (Hurler Syndrome)]

189.II 型黏多糖贮积症 ( 亨特氏综合征)[Mucopolysaccharidosis, Type II (Hunter Syndrome)]

190.IIIA 型黏多糖贮积症 (圣菲利波 A 型)[Mucopolysaccharidosis, Type IIIA (Sanfilippo A)]

191.IIIB 型黏多糖贮积症 (圣菲利波 B 型)[Mucopolysaccharidosis, Type IIIB (Sanfilippo B)]

192.IIIC 型黏多糖贮积症 (圣菲利波 C 型)[Mucopolysaccharidosis, Type IIIC (Sanfilippo C)]

193.IIID 型黏多糖贮积症 (圣菲利波 D 型)[Mucopolysaccharidosis, Type IIID (Sanfilippo D)]

194.黏多糖贮积症, IVB/GM1 型神经节苷脂贮积症(Mucopolysaccharidosis, Type IVB/GM1 Gangliosidosis)

195.IX 型黏多糖贮积症(Mucopolysaccharidosis, Type IX)

196.VI 型黏多糖贮积症 (马罗托-拉米综合征)[Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)]

197.多发性硫酸酯酶缺乏症(Multiple Sulfatase Deficiency)

198.POMGNT1 连带肌肉-眼-大脑疾病(Muscle-Eye-Brain Disease, POMGNT1-Related)

199.线粒体神经胃肠脑肌病(MNGIE)[Myoneurogastrointestinal Encephalopathy (MNGIE)]

200.伴 X 染色体肌小管性肌病(Myotubular Myopathy, X-Linked)

201.乙酰谷氨酸合成酶缺乏症(N-acetylglutamate Synthase Deficiency)

202.NEB 连带纤维质肌肉病变(Nemaline Myopathy, NEB-Related)

203.CLN5 连带神经元蜡样脂褐质沉积症(Neuronal Ceroid Lipofuscinosis, CLN5-Related)

204.CLN6 连带神经元蜡样脂褐质沉积症(Neuronal Ceroid Lipofuscinosis, CLN6-Related)

205.CLN8 连带神经元蜡样脂褐质沉积症(Neuronal Ceroid Lipofuscinosis, CLN8-Related)

206.MFSD8 连带神经元蜡样脂褐质沉积症(Neuronal Ceroid Lipofuscinosis, MFSD8-Related)

207.PPT1 连带神经元蜡样脂褐质沉积症(Neuronal Ceroid Lipofuscinosis, PPT1-Related)

208.TPP1 连带神经元蜡样脂褐质沉积症(Neuronal Ceroid Lipofuscinosis, TPP1-Related)

209.C1/D 型尼曼—匹克病(Niemann-Pick Disease, Type C1/D)

210.C2 型尼曼—匹克病(Niemann-Pick Disease, Type C2)

211.A/B 型尼曼—匹克病(Niemann-Pick Disease, Types A/B)

212.奈梅亨断裂综合征( Nijmegen Breakage Syndrome)

213.GJB2 连带遗传性非综合征型耳聋(Non-Syndromic Hearing Loss, GJB2-Related)

214.牙齿-指甲-皮肤发育不良/绍普夫-舒尔茨-帕萨尔格综合征[(Odonto-Onycho-Dermal)Dysplasia/Schopf-Schulz-Passarge Syndrome]

215.RAG2 连带预兆综合征(Omenn Syndrome, RAG2-Related)

216.鸟氨酸氨基转移酶缺乏症(Ornithine Aminotransferase Deficiency)

217.鸟氨酸氨甲酰基转移酶缺乏症(Ornithine Transcarbamylase Deficiency)

218.TCIRG1 连带小儿恶性骨硬化病(Osteopetrosis, Infantile Malignant, TCIRG1-Related)

219.耳聋甲状腺肿综合征(Pendred Syndrome)

220.苯丙酮酸尿症(Phenylketonuria)

221.结合 3 型垂体激素缺乏症(Pituitary Hormone Deficiency, Combined 3)

222.常染色体隐性遗传多囊性肾病变(Polycystic Kidney Disease, Autosomal Recessive)

223.RARS2 连带小脑发育不全症(Pontocerebellar Hypoplasia, RARS2-Related)

224.1A 型小脑发育不全症(Pontocerebellar Hypoplasia, Type 1A)

225.2D 型小脑发育不全症(Pontocerebellar Hypoplasia, Type 2D)

226.DNAH5 连带原发性纤毛运动障碍(Primary Ciliary Dyskinesia, DNAH5-Related)

227.DNAI1 连带原发性纤毛运动障碍(Primary Ciliary Dyskinesia, DNAI1-Related)

228.DNAI2 连带原发性纤毛运动障碍(Primary Ciliary Dyskinesia, DNAI2-Related)

229.1 型原发性高草酸尿症(Primary Hyperoxaluria, Type 1)

230.2 型原发性高草酸尿症(Primary Hyperoxaluria, Type 2)

231.3 型原发性高草酸尿症(Primary Hyperoxaluria, Type 3)

232.2 型内胆汁淤积症(Progressive Familial Intrahepatic Cholestasis, Type 2)

233.PCCA 连带丙酸血症(Propionic Acidemia, PCCA-Related)

234.PCCB 连带丙酸血症(Propionic Acidemia, PCCB-Related)

235.致密性成骨不全症(Pycnodysostosis)

236.PDHB 连带丙酮酸脱氢酶缺乏症(Pyruvate Dehydrogenase Deficiency, PDHB-Related)

237.伴 X 染色体丙酮酸脱氢酶缺乏症(Pyruvate Dehydrogenase Deficiency, X-Linked)

238.ATP6V1B1 连带肾小管性酸中毒和耳聋(Renal Tubular Acidosis and Deafness, ATP6V1B1-Related)

239.色素性视网膜炎 25(Retinitis Pigmentosa 25)

240.色素性视网膜炎 26(Retinitis Pigmentosa 26)

241.色素性视网膜炎 28(Retinitis Pigmentosa 28)

242.色素性视网膜炎 59(Retinitis Pigmentosa 59)

243.1 型肢根斑点状软骨发育异常(Rhizomelic Chondrodysplasia Punctata, Type 1)

244.3 型肢根斑点状软骨发育异常(Rhizomelic Chondrodysplasia Punctata, Type 3)

245.罗伯茨综合征(Roberts Syndrome)

246.唾液酸贮积病(Salla Disease)

247.氨基乙糖苷 A—B 酶缺乏症(Sandhoff Disease)

248.舒米科免疫性发育不良(Schimke Immunoosseous Dysplasia)

249.TH 连带濑川综合征(Segawa Syndrome, TH-Related)

250.ADA 连带重症综合性免疫缺陷(Severe Combined Immunodeficiency, ADA-Related)

251.阿萨巴斯卡型重症综合性免疫缺陷(Severe Combined Immunodeficiency, Type Athabaskan)

252.伴 X 染色体重症综合性免疫缺陷(Severe Combined Immunodeficiency, X-Linked)

253.智力发育不全综合征(Sjogren-Larsson Syndrome)

254.史密斯-莱米莉-奥皮茨综合征(Smith-Lemli-Opitz Syndrome)

255.脊髓性肌肉萎缩症(Spinal Muscular Atrophy)

256.MESP2 连带胸段脊柱发育不良(Spondylothoracic Dysostosis, MESP2-Related)

257.激素抵抗型肾病综合征(Steroid-Resistant Nephrotic Syndrome)

258.施蒂威-威德曼综合征(Stuve-Wiedemann Syndrome)

259.家族黑蒙性白痴病(Tay-Sachs Disease)

260.1型酪氨酸血症(Tyrosinemia, Type 1)

261.1B 型先天性聋视网膜色素变性综合征(Usher Syndrome, Type 1B)

262.1C 型先天性聋视网膜色素变性综合征(Usher Syndrome, Type 1C)

263.1D 型先天性聋视网膜色素变性综合征(Usher Syndrome, Type 1D)

264.1F 型先天性聋视网膜色素变性综合征(Usher Syndrome, Type 1F)

265.2A 型先天性聋视网膜色素变性综合征(Usher Syndrome, Type 2A)

266.3型先天性聋视网膜色素变性综合征(Usher Syndrome, Type 3)

267.超长链 酰基辅酶 A 脱氢酶缺乏症(Very Long-Chain Acyl-CoA Dehydrogenase Deficiency)

268.FKTN 连带沃克瓦尔堡综合征(Walker-Warburg Syndrome, FKTN-Related)

269.肝豆状核变性(Wilson Disease)

270.沃尔曼病(Wolman Disease)

271.PEX1 连带齐薇格谱系障碍(Zellweger Spectrum Disorders, PEX1-Related)

272.PEX10 连带齐薇格谱系障碍(Zellweger Spectrum Disorders, PEX10-Related)

273.PEX2 连带齐薇格谱系障碍(Zellweger Spectrum Disorders, PEX2-Related)

274.PEX6 连带齐薇格谱系障碍(Zellweger Spectrum Disorders, PEX6-Related)