VISTA™ 遺傳病基因檢測 - 香港華大基因

VISTA™ 遺傳病基因檢測

婚前檢測其中一項必做項目

VISTA™ 遺傳病
基因檢測

婚前檢測其中一項
必做項目

掌握遺傳疾病的關鍵，
保護下一代的未來！

VISTA™ 遺傳病基因檢測

大多數人不知道自己是遺傳性疾病的攜帶者，直到出生的孩子確診患有遺傳性疾病，才正視自己的健康問題。VISTA™遺傳病基因檢測提供市場上最全面、準確和價格相宜的孕前篩查之一。它可以幫助夫婦判斷將嚴重遺傳疾病遺傳給孩子的風險，並可以在懷孕前或懷孕期間進行檢測。另外，結婚前如果想要一個小朋友，測試一下自己有沒有隱性基因，如有，可考慮做體外受孕，挑選健康的胚胎孕育健康寶寶。

基本檢測

VISTA™ Carrier Screening
Mini Panel

12 種疾病
14 個基因

進階檢測

VISTA™ Carrier Screening
Target Panel

172 種疾病
160+ 個基因
11,000+ 個突變

全面檢測

VISTA™ Carrier Screening
MAX Panel

1,231 種疾病
1,236 個基因
所有相關突變

分析超過700多個基因上的80,000多個位點，覆蓋800多種疾病，當中涉及自閉、抽筋、智力低下表型疾病約300種。

為何選擇 VISTA™ 遺傳病基因檢測 ?

VISTA™ 遺傳病基因檢測可在懷孕前或懷孕期間進行，非常適合想要了解其遺傳狀況以便做出更明智的生育決定的夫婦。

適用人群

目前懷孕或計劃生育的婦女或夫婦。 (建議夫婦雙方同時進行檢測。)
接受捐精或捐卵的夫婦想了解提供精子或卵子的人士有沒有攜帶隱性基因。
有遺傳病家族史或已知患有某些遺傳病風險的人，代表他們成為這些疾病攜帶者的風險更高。

為什麽要進行遺傳病基因檢測？

基因從父母傳給下一代。孩子不僅會繼承父母的身體和外貌特徵，亦會繼承父母的才能。但如果父母傳給下一代的是隱性致命的基因呢？

大多數隱性遺傳病基因攜帶者並不知道自己有致命的突變基因。如果父母雙方都攜帶隱性突變基因，下一代就有可能成為重症患者至死亡。

研究表明，平均每個人攜帶2.8個隱性致病基因。^[1] 雖然個別遺傳病的發病率較低，但整體遺傳病的發病率卻高於1/100，比唐氏綜合症在香港的發病率更高（1/700)。^[2]如果父母雙方都有隱性致病基因，則有3/4的機率將相關基因遺傳給下一代，孩子更有1/4的機率患重病。嚴重者會出現終生畸形、殘疾甚至死亡。

因此，如果能儘早知道下一代患上隱性遺傳病的風險，可以幫助計劃生育的夫婦和懷孕初期的孕婦提前做好準備。

染色體隱性遺傳模式

如果夫婦雙方均檢測出攜帶有同一種常染色體隱性遺傳病的致病突變，則孩子有25%的概率是患者。

X連鎖隱性遺傳模式

如果母親是X連鎖遺傳病的攜帶者，則兒子有50%的概率是患者。

VISTA™ 遺傳病基因檢測 - 標準版

疾病	基因	發病率	携帶率^[3]
脆性 X 綜合徵	FMR1	1/5000 男性	1/250
假肥大性肌營養不良	DMD	1/3500 新生男嬰	未知
乙型血友病	F9	1/20000 男性	未知
遺傳性耳聾	GJB2, SLC26A4	1/700 – 1/1000 新生兒	1/29 GJB2 1/59 SLC26A4
脊髓性肌肉萎縮症	SMN1	1/6000 – 1/10000	1/62
苯丙酮尿症	PAH	1/11144	1/53
威爾遜氏症	ATP7B	1/30000	1/90
糖原累積病	GAA	1/50000 中國南方	1/100
半乳糖血症狀	GALT	1/40000	1/317
α-地中海貧血	HBA1, HBA2	1/10000 – 1/50000中國南方	1/6-1/52中國南方
β-地中海貧血	HBB	66/10000 新生兒	1/16-1/88中國南方
囊狀纖維化	CFTR	-	未知

VISTA™ 遺傳病例子

VISTA™ 遺傳病基因檢測涵蓋最常見的疾病，例如：

遺傳病	簡介
糖原累積病	人稱肌營不良症，是一種會導致肌肉萎縮、肌肉蛋白質缺失和肌肉組織壞死的遺傳性疾病。
杜興氏肌肉萎縮症	全球每30,000人中就有1人患此症。
威爾遜氏症	白種人中最常見的致命遺傳性疾病之一。
囊性纖維化	每50人中就有1人是此症的攜帶者。
脊髓肌肉萎縮症	最全面涵蓋市場上所有類型的龐貝氏症。

VISTA™ 遺傳病基因檢測 - 標準版

VISTA™ 遺傳病例子

VISTA™ 遺傳病基因檢測涵蓋最常見的疾病，例如：

單基因遺傳病基因檢測 - 高級版
Vista Condition List (Targeted Panel 2.0)

	疾病中文名	疾病英文名	檢測基因	遺傳模式
1	11-β-羥化酶缺乏性先天性腎上腺皮質增生症	Congenital Adrenal Hyperplasia due to 11-beta-Hydroxylase-Deficiency	CYP11B1	AR
2	17-α羥化酶缺乏性先天性腎上腺皮質增生症	Congenital Adrenal Hyperplasia due to 17-alpha Hydroxylase Deficiency	CYP17A1	AR
3	1 型纖溶酶原缺乏症	Plasminogen Deficiency, TypeI	PLG	AR
4	2，4-二烯醯輔酶 A 還原酶缺乏症	2,4-Dienoyl-CoA Reductase Deficiency	NADK2	AR
5	2-甲基丁醯甘氨酸尿症	2-Methylbutyryl Glycinuria	ACADSB	AR
6	3MC 綜合症 1 型	3MC Syndrome 1	MASP1	AR
7	3MC 綜合症 2 型	3MC Syndrome 2	COLEC11	AR
8	3-M 綜合症 2 型	3-M Syndrome 2	OBSL1	AR
9	3-β-羥類固醇脫氫酶缺乏症	3-beta-Hydroxysteroid Dehydrogenase Deficiency	HSD3B2	AR
10	3-甲基戊烯二酸尿症 1 型	3-Methylglutaconic Aciduria Type1	AUH	AR
11	3-甲基戊烯二酸尿症 3 型	3-Methylglutaconic Aciduria Type3	OPA3	AR
12	3-甲基戊烯二酸尿症 5 型	3-Methylglutaconic Aciduria Type5	DNAJC19	AR
13	3-甲基戊烯二酸尿症 8 型	3-Methylglutaconic Aciduria Type8	HTRA2	AR
14	3-甲基戊烯二酸尿症伴白內障、神經病及中性粒細胞减少	3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement, and Neutropenia	CLPB	AR
15	3-甲基戊烯二酸尿症伴耳聾、腦病及 leigh 樣綜合症	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome	SERAC1	AR
16	3-羥基-3-甲基戊二醯輔酶 A 合成酶 2 缺乏症	3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency	HMGCS2	AR
17	3-羥基-3-甲基戊二醯輔酶 A 裂解酶缺乏症	3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency	HMGCL	AR
18	3-羥異丁醯-輔酶 A 水解酶缺乏症	3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	HIBCH	AR
19	5’磷酸吡多醛依賴性癲癇	Pyridoxal 5′-Phosphate-dependent Epilepsy	PNPO	AR
20	AB 變異型 GM2 神經節苷脂貯積症	GM2-gangliosidosis, AB Variant	GM2A	AR
21	Adams-Oliver 綜合症 2 型	Adams-Oliver Syndrome 2	DOCK6	AR
22	Adams-Oliver 綜合症 4 型	Adams-Oliver Syndrome 4	EOGT	AR
23	Aicardi-Goutieres 綜合症 1 型	Aicardi-Goutieres Syndrome 1	TREX1	AR
24	Aicardi-Goutieres 綜合症 2 型	Aicardi-Goutieres Syndrome 2	RNASEH2B	AR
25	Aicardi-Goutieres 綜合症 3 型	Aicardi-Goutieres Syndrome 3	RNASEH2C	AR
26	Aicardi-Goutieres 綜合症 4 型	Aicardi-Goutieres Syndrome 4	RNASEH2A	AR
27	Aicardi-Goutieres 綜合症 5 型	Aicardi-Goutieres Syndrome 5	SAMHD1	AR
28	Aicardi-Goutieres 綜合症 6 型	Aicardi-Goutieres Syndrome 6	ADAR	AR
29	Al Kaissi 綜合症	Al Kaissi Syndrome	CDK10	AR
30	Alazami 綜合症	Alazami Syndrome	LARP7	AR
31	Alkuraya-Kucinskas 綜合症	Alkuraya-Kucinskas Syndrome	BLTP1	AR
32	Allan-Herndon-Dudley 綜合症	Allan-Herndon-Dudley Syndrome	SLC16A2	XL
33	Alstrom 綜合症	Alstrom Syndrome	ALMS1	AR
34	Anauxetic 發育不良 2 型	Anauxetic Dysplasia 2	POP1	AR
35	Antley-Bixler 綜合症伴生殖異常與甾體合成異常	Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis	POR	AR
36	Arts 綜合症	Arts Syndrome	PRPS1	XL
37	Athabaskan 腦幹發育不全綜合症	Athabaskan Brain Stem Dysgenesis Syndrome	HOXA1	AR
38	Baller-Gerold 綜合症	Baller-Gerold Syndrome	RECQL4	AR
39	Bardet-Biedl 綜合症 10 型	Bardet-Biedl Syndrome 10	BBS10	AR
40	Bardet-Biedl 綜合症 12 型	Bardet-Biedl Syndrome 12	BBS12	AR
41	Bardet-Biedl 綜合症 16 型	Bardet-Biedl Syndrome 16	SDCCAG8	AR
42	Bardet-Biedl 綜合症 17 型	Bardet-Biedl Syndrome 17	LZTFL1	AR
43	Bardet-Biedl 綜合症 1 型	Bardet-Biedl Syndrome 1	BBS1	AR
44	Bardet-Biedl 綜合症 2 型	Bardet-Biedl Syndrome 2	BBS2	AR
45	Bardet-Biedl 綜合症 3 型	Bardet-Biedl Syndrome 3	ARL6	AR
46	Bardet-Biedl 綜合症 4 型	Bardet-Biedl Syndrome 4	BBS4	AR
47	Bardet-Biedl 綜合症 5 型	Bardet-Biedl Syndrome 5	BBS5	AR
48	Bardet-Biedl 綜合症 7 型	Bardet-Biedl Syndrome 7	BBS7	AR
49	Bardet-Biedl 綜合症 8 型	Bardet-Biedl Syndrome 8	TTC8	AR
50	Bardet-Biedl 綜合症 9 型	Bardet-Biedl Syndrome 9	BBS9	AR
51	Barth 綜合症	Barth Syndrome	TAZ	XL
52	Bartter 綜合症 1 型	Bartter Syndrome 1	SLC12A1	AR
53	Bartter 綜合症 2 型	Bartter Syndrome 2	KCNJ1	AR
54	Basel-Vanagait-Smirin-Yosef 綜合症	Basel-Vanagait-Smirin-Yosef Syndrome	MED25	AR
55	BEHR 綜合症	BEHR Syndrome	OPA1	AR
56	BH4 缺乏性高苯丙氨酸血症 C 型	BH4-Deficient Hyperphenylalaninemia C	QDPR	AR
57	Blomstrand 型軟骨發育異常	Chondro Dysplasia, Blomstrand Type	PTH1R	AR
58	Bloom 綜合症	Bloom Syndrome	BLM	AR
59	Borjeson-Forssman-Lehmann 綜合症	Borjeson-Forssman-Lehmann Syndrome	PHF6	XL
60	Boucher-Neuhauser 綜合症	Boucher-Neuhauser Syndrome	PNPLA6	AR
61	Brachyolmia 4 型	Brachyolmia Type4	PAPSS2	AR
62	Brown-Vialetto-Van Laere 綜合症 1 型	Brown-Vialetto-Van Laere Syndrome 1	SLC52A3	AR
63	Brown-Vialetto-Van Laere 綜合症 2 型	Brown-Vialetto-Van Laere Syndrome 2	SLC52A2	AR
64	Bruck 綜合症 1 型	Bruck Syndrome 1	FKBP10	AR
65	Bruck 綜合症 2 型	Bruck Syndrome 2	PLOD2	AR
66	Brunner 綜合症	Brunner Syndrome	MAOA	XL
67	Burn-Mckeown 綜合症	Burn-Mckeown Syndrome	TXNL4A	AR
68	Canavan 病	Canavan Disease	ASPA	AR
69	Carey-Fineman-Ziter 綜合症	Carey-Fineman-Ziter Syndrome	MYMK	AR
70	Carpenter 綜合症 1 型	Carpenter Syndrome 1	RAB23	AR
71	Carpenter 綜合症 2 型	Carpenter Syndrome 2	MEGF8	AR
72	Cayman 型小腦共濟失調	Cerebellar Ataxia, Cayman Type	ATCAY	AR
73	Cenani-Lenz 幷指（趾）綜合症	Cenani-Lenz Syndactyly Syndrome	LRP4	AR
74	Chanarin-Dorfman 綜合症	Chanarin-Dorfman Syndrome	ABHD5	AR
75	Charcot-Marie-Tooth 病,軸突型 2A2B 型	Charcot-Marie-Tooth Disease, Axonal, Type 2A2B	MFN2	AR
76	Charcot-Marie-Tooth 病 3 型	Charcot-Marie-Tooth Disease Type3	PRX	AR
77	Charcot-Marie-Tooth 病 4B1 型	Charcot-Marie-Tooth Disease Type4B1	MTMR2	AR
78	Charcot-Marie-Tooth 病 4C 型	Charcot-Marie-Tooth Disease Type4C	SH3TC2	AR
79	Charcot-Marie-Tooth 病 4D 型	Charcot-Marie-Tooth Disease Type4D	NDRG1	AR
80	Chediak-Higashi 綜合症	Chediak-Higashi Syndrome	LYST	AR
81	Christianson 型 X 連鎖智力障礙綜合症	X-Linked Syndromic Mental Retardation, Christianson type	SLC9A6	XL
82	Chudley-McCullough 綜合症	Chudley-McCullough Syndrome	GPSM2	AR
83	Claes-Jensen 型 X 連鎖綜合症型智力障礙	X-Linked Syndromic Mental Retardation, Claes-Jensen type	KDM5C	XL
84	COACH 綜合症	COACH Syndrome	TMEM67, CC2D2A	AR
85	Cockayne 綜合症 A 型	Cockayne Syndrome A	ERCC8	AR
86	Cockayne 綜合症 B 型	Cockayne Syndrome B	ERCC6	AR
87	CODAS 綜合症	CODAS Syndrome	LONP1	AR
88	Coffin-Lowry 綜合症	Coffin-Lowry Syndrome	RPS6KA3	XL
89	Cohen 綜合症	Cohen Syndrome	VPS13B	AR
90	Crigler-Najjar 綜合症 1 型	Crigler-Najjar Syndrome Type1	UGT1A1	AR
91	D,L-2-羥基戊二酸尿症	D,L-2-hydroxyglutaric aciduria	SLC25A1	AR
92	D-2-羥基戊二酸尿症 1 型	D-2-hydroxyglutaric aciduria 1	D2HGDH	AR
93	DCLRE1C 重型聯合免疫缺陷症	DCLRE1C-Related Severe Combined Immuno Deficiency	DCLRE1C	AR
94	Dejerine-Sottas 肥大性神經病	Hypertrophic Neuropathy of Dejerine Sottas	MPZ	AR
95	Desbuquois 發育不良 1 型	Desbuquois Dysplasia 1	CANT1	AR
96	Desbuquois 發育不良 2 型	Desbuquois Dysplasia 2	XYLT1	AR
97	Donnai-Barrow 綜合症	Donnai-Barrow Syndrome	LRP2	AR
98	Dyggve-Melchior-Clausen 病	Dyggve-Melchior-Clausen Disease	DYM	AR
99	D-甘油酸尿症	D-Glyceric Aciduria	GLYCTK	AR
100	D-雙功能蛋白缺乏症	D-bifunctional protein Deficiency	HSD17B4	AR
101	Ehlers-Danlos 綜合症 6 型	Ehlers-Danlos Syndrome TypeVI	PLOD1	AR
102	Ehlers-Danlos 綜合症 7C 型	Ehlers-Danlos Syndrome TypeVIIC	ADAMTS2	AR
103	Ehlers-Danlos 綜合症伴脊柱後凸側彎、肌病及耳聾	Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss	FKBP14	AR
104	Ellis-van Creveld 綜合症	Ellis-van Creveld Syndrome	EVC,EVC2	AR
105	Elsahy-Waters 綜合症	Elsahy-Waters Syndrome	CDH11	AR
106	Fabry 病	Fabry Disease	GLA	XL
107	Fanconi-Bickel 綜合症	Fanconi-Bickel Syndrome	SLC2A2	AR
108	Farber 脂肪肉芽腫病	Farber Lipogranulomatosis	ASAH1	AR
109	FG 綜合症 2 型	FG Syndrome Type2	FLNA	XL
110	FG 綜合症 4 型	FG Syndrome Type4	CASK	XL
111	Filippi 綜合症	Filippi Syndrome	CKAP2L	AR
112	Frank-ter Haar 綜合症	Frank-ter Haar Syndrome	SH3PXD2B	AR
113	Fraser 綜合症 1 型	Fraser Syndrome 1	FRAS1	AR
114	Fraser 綜合症 2 型	Fraser Syndrome 2	FREM2	AR
115	Fraser 綜合症 3 型	Fraser Syndrome 3	GRIP1	AR
116	FRAXE 型 X 連鎖智力障礙	X-linked Mental Retardation, FRAXE type	AFF2	XL
117	GABA 轉氨酶缺乏症	GABA-Transaminase Deficiency	ABAT	AR
118	Galloway-Mowat 綜合症 1 型	Galloway-Mowat Syndrome 1	WDR73	AR
119	Galloway-Mowat 綜合症 3 型	Galloway-Mowat Syndrome 3	OSGEP	AR
120	Geleophysic 發育不良 1 型	Geleophysic Dysplasia 1	ADAMTSL2	AR
121	Genevieve 型脊椎幹骺端發育不全	Spondyloepimetaphyseal Dysplasia, Genevieve Type	NANS	AR
122	Gillespie 綜合症	Gillespie Syndrome, Autosomal recessive	ITPR1	AR
123	Goldberg-Shprintzen 綜合症	Goldberg-Shprintzen Syndrome	KIFBP	AR
124	Gracile 綜合症	Gracile Syndrome	BCS1L	AR
125	Greenberg 骨發育不良	Greenberg Dysplasia	LBR	AR
126	Griscelli 綜合症 2 型	Griscelli Syndrome 2	RAB27A	AR
127	GTP 環化水解酶 1 缺乏性多巴反應性張力失調	Dopa-Responsive Dystonia	GCH1	AR
128	Hennekam 淋巴管擴張-淋巴水腫綜合症 1 型	Hennekam Lymphangiectasia-Lymphedema Syndrome 1	CCBE1	AR
129	Hennekam 淋巴管擴張症-淋巴水腫綜合症 2 型	Hennekam Lymphangiectasia-Lymphedema Syndrome 2	FAT4	AR
130	Hermansky-Pudlak 綜合症 1 型	Hermansky-Pudlak Syndrome 1	HPS1	AR
131	Hermansky-Pudlak 綜合症 3 型	Hermansky-Pudlak Syndrome 3	HPS3	AR
132	Hermansky-Pudlak 綜合症 4 型	Hermansky-Pudlak Syndrome 4	HPS4	AR
133	Hermansky-Pudlak 綜合症 5 型	Hermansky-Pudlak Syndrome 5	HPS5	AR
134	Hermansky-Pudlak 綜合症 6 型	Hermansky-Pudlak Syndrome 6	HPS6	AR
135	HSD10 綫粒體疾病	HSD10 Mitochondrial Disease	HSD17B10	XL
136	Hurler-Scheie 綜合症	Hurler-Scheie Syndrome	IDUA	AR
137	Hurler 綜合症	Hurler Syndrome	IDUA	AR
138	IPEX 綜合症	X-linked Immunodysregulation, Polyendocrinopathy, and Enteropathy	FOXP3	XL
139	Jalili 綜合症	Jalili Syndrome	CNNM4	AR
140	Jervell 和 Lange-Nielsen 綜合症 1 型	Jervell and Lange-Nielsen Syndrome 1	KCNQ1	AR
141	Jervell 和 Lange-Nielsen 綜合症 2 型	Jervell and Lange-Nielsen Syndrome 2	KCNE1	AR
142	Johanson-Blizzard 綜合症	Johanson-Blizzard Syndrome	UBR1	AR
143	Joubert 綜合症 10 型	Joubert Syndrome 10	OFD1	XL
144	Joubert 綜合症 14 型	Joubert Syndrome 14	TMEM237	AR
145	Joubert 綜合症 15 型	Joubert Syndrome 15	CEP41	AR
146	Joubert 綜合症 16 型	Joubert Syndrome 16	TMEM138	AR
147	Joubert 綜合症 17 型	Joubert Syndrome 17	CPLANE1	AR
148	Joubert 綜合症 18 型	Joubert Syndrome 18	TCTN3	AR
149	Joubert 綜合症 1 型	Joubert Syndrome 1	INPP5E	AR
150	Joubert 綜合症 20 型	Joubert Syndrome 20	TMEM231	AR
151	Joubert 綜合症 21 型	Joubert Syndrome 21	CSPP1	AR
152	Joubert 綜合症 24 型	Joubert Syndrome 24	TCTN2	AR
153	Joubert 綜合症 2 型	Joubert Syndrome 2	TMEM216	AR
154	Joubert 綜合症 3 型	Joubert Syndrome 3	AHI1	AR
155	Joubert 綜合症 4 型	Joubert Syndrome 4	NPHP1	AR
156	Joubert 綜合症 5 型	Joubert Syndrome 5	CEP290	AR
157	Joubert 綜合症 6 型	Joubert Syndrome 6	TMEM67	AR
158	Joubert 綜合症 8 型	Joubert Syndrome 8	ARL13B	AR
159	Joubert 綜合症 9 型	Joubert Syndrome 9	CC2D2A	AR
160	Kaufman 眼腦面綜合症	Kaufman Oculocerebrofacial Syndrome	UBE3B	AR
161	Kenny-Caffey 綜合症 1 型	Kenny-Caffey Syndrome Type1	TBCE	AR
162	Keutel 綜合症	Keutel Syndrome	MGP	AR
163	Kindler 綜合症	Kindler Syndrome	FERMT1	AR
164	Knobloch 綜合症 1 型	Knobloch Syndrome TypeI	COL18A1	AR
165	Kohlschutter-Tonz 綜合症	Kohlschutter-Tonz Syndrome	ROGDI	AR
166	Krabbe 病	Krabbe Disease	GALC	AR
167	L-2-羥基戊二酸尿症	L-2-hydroxyglutaric Aciduria	L2HGDH	AR
168	Lafora 病	Lafora Disease	EPM2A	AR
169	Lafora 型進行性肌陣攣癲癇	Myoclonic epilepsy of Lafora	NHLRC1	AR
170	LAMA3 相關性交界型大疱性表皮松解	LAMA3-Related Junctional Epidermolysis Bullosa	LAMA3	AR
171	LAMB3 相關性交界型大疱性表皮松解	LAMB3-Related Junctional Epidermolysis Bullosa	LAMB3	AR
172	LAMC2 相關性交界型大疱性表皮松解	LAMC2-Related Junctional Epidermolysis Bullosa	LAMC2	AR
173	Leber 氏先天性黑蒙 12 型	Leber Congenital Amaurosis 12	RD3	AR
174	Leber 氏先天性黑蒙 13 型	Leber Congenital Amaurosis 13	RDH12	AR
175	Leber 氏先天性黑蒙 14 型	Leber congenital Amaurosis 14	LRAT	AR
176	Leber 氏先天性黑蒙 1 型	Leber Congenital Amaurosis 1	GUCY2D	AR
177	Leber 氏先天性黑蒙 2 型	Leber Congenital Amaurosis 2	RPE65	AR
178	Leber 氏先天性黑蒙 3 型	Leber Congenital Amaurosis 3	SPATA7	AR
179	Leber 氏先天性黑蒙 5 型	Leber Congenital Amaurosis 5	LCA5	AR
180	Leber 氏先天性黑蒙 8 型	Leber Congenital Amaurosis 8	CRB1	AR
181	Leber 氏先天性黑蒙 9 型	Leber Congenital Amaurosis 9	NMNAT1	AR
182	Lesch-Nyhan 綜合症	Lesch-Nyhan Syndrome	HPRT1	XL
183	LIG4 綜合症	LIG4 Syndrome	LIG4	AR
184	Lowe 綜合症	Lowe Syndrome	OCRL	XL
185	Lujan-Fryns 綜合症	Lujan-Fryns Syndrome	MED12	XL
186	Majeed 綜合症	Majeed Syndrome	LPIN2	AR
187	Marinesco-Sjogren 綜合症	Marinesco-Sjogren Syndrome	SIL1	AR
188	MASA 綜合症	MASA Syndrome	L1CAM	XL
189	McKusick Kaufman 綜合症	McKusick-Kaufman Syndrome	MKKS	AR
190	Meckel 綜合症 1 型	Meckel Syndrome 1	MKS1	AR
191	Meckel 綜合症 2 型	Meckel Syndrome 2	TMEM216	AR
192	Meckel 綜合症 3 型	Meckel Syndrome 3	TMEM67	AR
193	Meckel 綜合症 4 型	Meckel Syndrome 4	CEP290	AR
194	Meckel 綜合症 5 型	Meckel Syndrome 5	RPGRIP1L	AR
195	MECP2 突變所致重症新生兒腦病	Neonatal Severe Encephalopathy due To MECP2 Mutations	MECP2	XL
196	Meester-Loeys 綜合症	Meester-Loeys Syndrome	BGN	XL
197	Megaconial 型先天性肌營養不良	Congenital Muscular Dystrophy, Megaconial type	CHKB	AR
198	MEHMO 綜合症	MEHMO Syndrome	EIF2S3	XL
199	Meier-Gorlin 綜合症 1 型	Meier-Gorlin Syndrome 1	ORC1	AR
200	Meier-Gorlin 綜合症 3 型	Meier-Gorlin Syndrome 3	ORC6	AR
201	Meier-Gorlin 綜合症 4 型	Meier-Gorlin Syndrome 4	CDT1	AR
202	Meier-Gorlin 綜合症 7 型	Meier-Gorlin Syndrome 7	CDC45	AR
203	Menkes 病	Menkes Disease	ATP7A	XL
204	Merosin 缺乏性先天性肌營養不良 1A 型	Merosin-deficient Congenital Muscular Dystrophy Type 1A	LAMA2	AR
205	Miller 綜合症	Miller Syndrome	DHODH	AR
206	Mitchell-Riley 綜合症	Mitchell-Riley Syndrome	RFX6	AR
207	Mohr-Tranebjaerg 綜合症	Mohr-Tranebjaerg Syndrome	TIMM8A	XL
208	MYD88 缺乏性復發化膿性細菌感染	Recurrent Pyogenic Bacterial Infections due to MYD88 Deficiency	MYD88	AR
209	Nascimento 型 X 連鎖綜合症型智力障礙	X-Linked Syndromic Mental Retardation, Nascimento-type	UBE2A	XL
210	Naxos 病	Naxos Disease	JUP	AR
211	Netherton 綜合症	Netherton Syndrome	SPINK5	AR
212	Neu-Laxova 綜合症 1 型	Neu-Laxova Syndrome 1	PHGDH	AR
213	Neu-Laxova 綜合症 2 型	Neu-Laxova Syndrome 2	PSAT1	AR
214	Niemann-Pick 病 A 型	Niemann-Pick Disease Type A	SMPD1	AR
215	Niemann-Pick 病 B 型	Niemann-Pick Disease Type B	SMPD1	AR
216	Niemann-Pick 病 C1 型	Niemann-Pick Disease Type C1	NPC1	AR
217	Niemann-Pick 病 C2 型	Niemann-Pick Disease Type C2	NPC2	AR
218	Norrie 病	Norrie Disease	NDP	XL
219	N-乙醯谷氨酸合成酶缺乏症	N-acetylglutamate Synthase Deficiency	NAGS	AR
220	Ogden 綜合症	Ogden Syndrome	NAA10	XL
221	Omani 型脊椎骺發育不全	Spondyloepiphyseal Dysplasia, Omani type	CHST3	AR
222	Omenn 綜合症	Omenn Syndrome	RAG1, RAG2	AR
223	Opitz Gbbb 綜合症 I 型	Opitz Gbbb Syndrome, TypeI	MID1	XL
224	Opsismo 發育不良	Opsismo Dysplasia	INPPL1	AR
225	PEHO 綜合症	PEHO Syndrome	ZNHIT3	AR
226	PERCHING 綜合症	PERCHING Syndrome	KLHL7	AR
227	Perlman 綜合症	Perlman Syndrome	DIS3L2	AR
228	Perrault 綜合症 3 型	Perrault Syndrome 3	CLPP	AR
229	Perrault 綜合症 4 型	Perrault Syndrome 4	LARS2	AR
230	Peters Plus 綜合症	Peters Plus Syndrome	B3GLCT	AR
231	Pierson 綜合症	Pierson Syndrome	LAMB2	AR
232	Pitt-Hopkins 樣綜合症 1 型	Pitt-Hopkins like Syndrome 1	CNTNAP2	AR
233	Poretti-Boltshauser 綜合症	Poretti-Boltshauser Syndrome	LAMA1	AR
234	Raine 綜合症	Raine Syndrome	FAM20C	AR
235	Raymond 型 X 連鎖綜合症型智力障礙	X-Linked Syndromic Mental Retardation, Raymond Type	ZDHHC9	XL
236	Renpenning 綜合症	Renpenning Syndrome	PQBP1	XL
237	Sandhoff 病	Sandhoff Disease	HEXB	AR
238	Saposin B 缺乏性異染性腦白質病變	Metachromatic Leukodystrophy due to Saposin B Deficiency	PSAP	AR
239	Schimke 免疫性骨發育不良	Schimke Immunoosseous Dysplasia	SMARCAL1	AR
240	Schneckenbecken 發育不良	Schneckenbecken Dysplasia	SLC35D1	AR
241	Schwartz-Jampel 綜合症 1 型	Schwartz-Jampel Syndrome, Type1	HSPG2	AR
242	Schwartz-Jampel 綜合症 2 型	Schwartz-Jampel Syndrome, Type2	LIFR	AR
243	SC-短肢綜合症	SC Phocomelia Syndrome	ESCO2	AR
244	Seckel 綜合症 1 型	Seckel Syndrome Type1	ATR	AR
245	Seckel 綜合症 2 型	Seckel Syndrome Type2	RBBP8	AR
246	Seckel 綜合症 5 型	Seckel Syndrome Type5	CEP152	AR
247	Segawa 綜合症	Segawa Syndrome, recessive	TH	AR
248	Sengers 綜合症	Sengers Syndrome	AGK	AR
249	Senior-Loken 綜合症 4 型	Senior-Loken Syndrome 4	NPHP4	AR
250	Senior-Loken 綜合症 5 型	Senior-Loken Syndrome 5	IQCB1	AR
251	Senior-Loken 綜合症 8 型	Senior-Loken Syndrome 8	WDR19	AR
252	Shwachman-Diamond 綜合症	Shwachman-Diamond Syndrome	SBDS	AR
253	Siderius 型 X 連鎖綜合症型智力障礙	X-linked Mental Retardation Syndrome, Siderius	PHF8	XL
254	Simpson-Golabi-Behmel 綜合症 1 型	Simpson-Golabi-Behmel Syndrome Type1	GPC3	XL
255	Sjögren-Larsson 綜合症	Sjögren-Larsson Syndrome	ALDH3A2	AR
256	Smith-Lemli-Opitz 綜合症	Smith-Lemli-Opitz Syndrome	DHCR7	AR
257	Smith-McCort 綜合症 2 型	Smith-McCort Dysplasia 2	RAB33B	AR
258	Snyder-Robinson 智力障礙綜合症	Snyder-Robinson Mental Retardation Syndrome	SMS	XL
259	Steel 綜合症	Steel Syndrome	COL27A1	AR
260	TARP 綜合症	TARP Syndrome	RBM10	XL
261	Tay-Sachs 病	Tay-Sachs Disease	HEXA	AR
262	Temtamy 軸前性短指綜合症	Temtamy Preaxial Brachydactyly Syndrome	CHSY1	AR
263	Temtamy 綜合症	Temtamy Syndrome	C12orf57	AR
264	Tenascin-X 缺乏型 Ehlers-Danlos 綜合症	Tenascin-X Deficiency Type Ehlers-Danlos Syndrome	TNXB	AR
265	Ullrich 先天性肌營養不良 1 型	Ullrich Congenital Muscular Dystrophy 1	COL6A1,COL6A2, COL6A3	AR
266	Usher 綜合症 1B 型	Usher Syndrome Type IB	MYO7A	AR
267	Usher 綜合症 1C 型	Usher Syndrome Type IC	USH1C	AR
268	Usher 綜合症 1D 型	Usher Syndrome, Type 1D	CDH23	AR
269	Usher 綜合症 1F 型	Usher Syndrome Type IF	PCDH15	AR
270	Usher 綜合症 1G 型	Usher Syndrome Type IG	USH1G	AR
271	Usher 綜合症 1 型	Usher Syndrome Type IJ	CIB2	AR
272	Usher 綜合症 2A 型	Usher Syndrome Type IIA	USH2A	AR
273	Usher 綜合症 2D 型	Usher Syndrome Type IID	WHRN	AR
274	Usher 綜合症 3A 型	Usher Syndrome Type IIIA	CLRN1	AR
275	Van Den Ende-Gupta 綜合症	Van Den Ende-Gupta Syndrome	SCARF2	AR
276	Van Maldergem 綜合症 1 型	Van Maldergem Syndrome 1	DCHS1	AR
277	Vici 綜合症	Vici Syndrome	EPG5	AR
278	VII 因子缺乏症	Factor VII Deficiency	F7	AR
279	V 因子缺乏症	Factor V Deficiency	F5	AR
280	Warburg Micro 綜合症 1 型	Warburg Micro Syndrome 1	RAB3GAP1	AR
281	Warburg Micro 綜合症 2 型	Warburg Micro Syndrome 2	RAB3GAP2	AR
282	Warburg Micro 綜合症 3 型	Warburg Micro Syndrome 3	RAB18	AR
283	Wieacker-Wolff 綜合症	Wieacker-Wolff Syndrome	ZC4H2	XL
284	Wiskott-Aldrich 綜合症 1 型	Wiskott-Aldrich Syndrome 1	WAS	XL
285	Wolfram 綜合症 1 型	Wolfram Syndrome 1	WFS1	AR
286	Wolfram 綜合症 2 型	Wolfram Syndrome 2	CISD2	AR
287	Woodhouse-Sakati 綜合症	Woodhouse-Sakati Syndrome	DCAF17	AR
288	X 連鎖 Alport 綜合症 1 型	Alport Syndrome 1, X-linked	COL4A5	XL
289	X 連鎖 Charcot-Marie-Tooth 病 4 型	X-linked Charcot-Marie-Tooth Disease 4	AIFM1	XL
290	X 連鎖 Emery-Dreifuss 肌營養不良 1 型	X-linked Emery-Dreifuss Muscular Dystrophy 1	EMD	XL
291	X 連鎖備解素缺乏症	X-Linked Properdin Deficiency	CFP	XL
292	X 連鎖低磷酸鹽血症	X-Linked Hypophosphatemia	PHEX	XL
293	X 連鎖黃斑變性萎縮症	Macular Degeneration, X-Linked Atrophic	RPGR	XL
294	X 連鎖肌病伴過度自噬	X-Linked Myopathy with Excessive Autophagy	VMA21	XL
295	X 連鎖淋巴增殖綜合症 1 型	X-Linked Lymphoproliferative Syndrome 1	SH2D1A	XL
296	X 連鎖淋巴增殖綜合症 2 型	X-Linked Lymphoproliferative Syndrome 2	XIAP	XL
297	X 連鎖慢性肉芽腫病	X-linked Chronic Granulomatous Disease	CYBB	XL
298	X 連鎖青年型視網膜劈裂症	X-Linked Juvenile Retinoschisis	RS1	XL
299	X 連鎖少汗性外胚層發育不良	X-Linked Hypohidrotic Ectodermal Dysplasia	EDA	XL
300	X 連鎖腎上腺腦白質營養不良症	X-Linked Adrenoleukodystrophy	ABCD1	XL
301	X 連鎖體位性肌肉萎縮肌病	Myopathy, X-linked, with Postural Muscle Atrophy	FHL1	XL
302	X 連鎖鐵粒幼紅細胞性貧血伴共濟失調	X-linked Sideroblastic Anemia and Ataxia	ABCB7	XL
303	X 連鎖網狀色素異常症	X-linked Pigmentary disorder, Reticulate, with Systemic Manifestations	POLA1	XL
304	X 連鎖無腦回畸形 1 型	X-linked Lissencephaly 1	DCX	XL
305	X 連鎖無腦回畸形 2 型	X-linked Lissencephaly 2	ARX	XL
306	X 連鎖先天性角化不良	X-Linked Dyskeratosis Congenita	DKC1	XL
307	X 連鎖先天性腎上腺發育不全	X-Linked Adrenal Hypoplasia Congenita	NR0B1	XL
308	X 連鎖遺傳眼白化病	X-Linked Ocular Albinism	GPR143	XL
309	X 連鎖嬰兒型脊肌萎縮症 2 型	Spinal Muscular atrophy, X-linked 2, Infantile	UBA1	XL
310	X 連鎖智力障礙	X-linked Mental Retardation	NLGN4X	XL
311	X 連鎖智力障礙 12 型	X-Linked Mental Retardation 12	THOC2	XL
312	X 連鎖智力障礙 1 型	X-Linked Mental Retardation 1	IQSEC2	XL
313	X 連鎖智力障礙 21 型	X-Linked Mental Retardation 21	IL1RAPL1	XL
314	X 連鎖智力障礙 30 型	X-Linked Mental Retardation 30	PAK3	XL
315	X 連鎖智力障礙 41 型	X-Linked Mental Retardation 41	GDI1	XL
316	X 連鎖智力障礙 49 型	X-Linked Mental Retardation 49	CLCN4	XL
317	X 連鎖智力障礙 58 型	X-Linked Mental Retardation 58	TSPAN7	XL
318	X 連鎖智力障礙 61 型	X-Linked Mental Retardation 61	RLIM	XL
319	X 連鎖智力障礙 72 型	X-Linked Mental Retardation 72	RAB39B	XL
320	X 連鎖智力障礙 90 型	X-Linked Mental Retardation 90	DLG3	XL
321	X 連鎖智力障礙 93 型	X-Linked Mental Retardation 93	BRWD3	XL
322	X 連鎖智力障礙 96 型	X-Linked Mental Retardation 96	SYP	XL
323	X 連鎖智力障礙 97 型	X-Linked Mental Retardation 97	ZNF711	XL
324	X 連鎖智力障礙 98 型	X-Linked Mental Retardation 98	NEXMIF	XL
325	X 連鎖智力障礙 99 型	X-Linked Mental Retardation 99	USP9X	XL
326	X 連鎖智力障礙 9 型	X-Linked Mental Retardation 9	FTSJ1	XL
327	X 連鎖智力障礙伴小腦發育不全及特殊面容	X-Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance	OPHN1	XL
328	X 連鎖智力障礙-低張力面容綜合症	X-Linked Mental Retardation-Hypotonic Facies Syndrome 1	ATRX	XL
329	X 連鎖中央核肌病	X-Linked Centronuclear Myopathy	MTM1	XL
330	X 連鎖重症聯合免疫缺陷	X-Linked Severe Combined Immuno Deficiency	IL2RG	XL
331	X 連鎖綜合症型智力障礙 14 型	X-Linked Syndromic Mental Retardation 14	UPF3B	XL
332	X 連鎖綜合症型智力障礙 15 型	X-Linked Syndromic Mental Retardation 15	CUL4B	XL
333	X 連鎖綜合症型智力障礙 35 型	X-Linked Syndromic Mental Retardation 35	RPL10	XL
334	X 連鎖綜合症型智力障礙 5 型	X-Linked Syndromic Mental Retardation 5	AP1S2	XL
335	You-Hoover-Fong 綜合症	You-Hoover-Fong Syndrome	TELO2	AR
336	Yunis-Varon 綜合症	Yunis-Varon Syndrome	FIG4	AR
337	α1 抗胰蛋白酶缺乏症	Alpha1-Antitrypsin Deficiency	SERPINA1	AR
338	α-N-乙醯氨基半乳糖轉移酶缺乏症	Alpha-N-acetylgalactosaminidase Deficiency	NAGA	AR
339	α-地中海貧血	Alpha-Thalassemia	HBA1, HBA2	AR
340	α-甘露糖苷貯積症	Alpha-Mannosidosis	MAN2B1	AR
341	β-地中海貧血	Beta-Thalassemia	HBB	AR
342	β-甘露糖苷貯積症	Beta-Mannosidosis	MANBA	AR
343	β-脲基丙酸酶缺乏症	Beta-Ureidopropionase Deficiency	UPB1	AR
344	β-酮硫酶缺乏症	Beta-Ketothiolase Deficiency	ACAT1	AR
345	矮妖精貌綜合症	Donohue Syndrome	INSR	AR
346	氨甲醯磷酸合成酶 I 缺乏症	Carbamoylphosphate Synthetase I Deficiency	CPS1	AR
347	氨醯基脯氨酸酶缺乏症	Prolidase Deficiency	PEPD	AR
348	白介素-1 受體拮抗劑缺乏症	Interleukin 1 Receptor Antagonist Deficiency	IL1RN	AR
349	白內障、生長激素缺乏及感覺神經病、感音神經性耳聾及骨胳發育不良	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	IARS2	AR
350	白內障 18 型	Cataract 18	FYCO1	AR
351	白內障 40 型	Cataract 40	NHS	XL
352	白細胞粘附缺陷 1 型	Leukocyte Adhesion Deficiency Type1	ITGB2	AR
353	白細胞粘附缺陷 3 型	Leukocyte Adhesion Deficiency Type3	FERMT3	AR
354	半乳糖激酶缺乏症	Galactokinase Deficiency	GALK1	AR
355	半乳糖唾液酸貯積症	Galactosialidosis	CTSA	AR
356	半乳糖血症	Galactosemia	GALT	AR
357	伴睾丸發育不全的嬰兒猝死綜合症	Sudden Infant Death With Dysgenesis Of The Testes Syndrome	TSPYL1	AR
358	伴關節鬆弛的脊椎骨骺發育不良伴或不伴骨折 1 型	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type1, With Or Without Fractures	B3GALT6	AR
359	鮑恩-康拉迪綜合症	Bowen-Conradi Syndrome	EMG1	AR
360	苯丙酮尿症	Phenylketonuria	PAH	AR
361	鼻裂伴或不伴肛門直腸與腎畸形	Bifid Nose With Or Without Anorectal And Renal Anomalies	FREM1	AR
362	吡哆醇不敏感型鐵粒幼紅細胞性貧血 2 型	Pyridoxine-Refractory Sideroblastic Anemia 2	SLC25A38	AR
363	吡哆醇依賴性癲癇	Pyridoxine-Dependent Epilepsy	ALDH7A1	AR
364	表皮松解角化過度症	Epidermolytic Hyperkeratosis	KRT10	AR
365	丙二醯-CoA 脫羧酶缺乏症	Malonyl-Coa Decarboxylase Deficiency	MLYCD	AR
366	丙酸血症	Propionicacidemia	PCCA, PCCB	AR
367	丙酮酸激酶缺乏症	Pyruvate Kinase Deficiency	PKLR	AR
368	丙酮酸羧化酶缺乏症	Pyruvate Carboxylase Deficiency	PC	AR
369	丙酮酸脫氫酶 E1-α缺乏症	Pyruvate Dehydrogenase E1-alpha Deficiency	PDHA1	XL
370	丙酮酸脫氫酶 E1-β缺乏症	Pyruvate Dehydrogenase E1-Beta Deficiency	PDHB	AR
371	丙酮酸脫氫酶磷酸酶缺乏症	Pyruvate Dehydrogenase Phosphatase Deficiency	PDP1	AR
372	丙酮酸脫氫酶硫辛酸合成酶缺乏症	Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency	LIAS	AR
373	補體 C1q 缺乏症	C1q Deficiency	C1QA,C1QB, C1QC	AR
374	補體過度激活、血管病性血栓形成和蛋白質丟失性腸病	Complement Hyperactivation, Angiopathic Thrombosis, and Protein-losing Enteropathy	CD55	AR
375	補體因子 I 缺乏症	Complement Factor I Deficiency	CFI	AR
376	差向異構酶缺乏性半乳糖血症	Epimerase Deficiency Galactosemia	GALE	AR
377	腸源性低鎂血症 1 型	Hypomagnesemia 1, Intestinal	TRPM6	AR
378	常見變異型免疫缺陷症 1 型	Common Variable Immune Deficiency 1	ICOS	AR
379	常見變異型免疫缺陷症 2 型	Common Variable Immune Deficiency 2	TNFRSF13B	AR
380	常見變異型免疫缺陷症 6 型	Common Variable Immune Deficiency 6	CD81	AR
381	常見變異型免疫缺陷症 8 型伴自身免疫	Common Variable Immune Deficiency 8 with Autoimmunity	LRBA	AR
382	常染色體痙攣性截癱 30 型	Autosomal Spastic Paraplegia 30	KIF1A	AR
383	常染色體先天性角化不良 5 型/4 型	Autosomal Dyskeratosis Congenita 5/4	RTEL1	AR
384	常染色體隱性 Alport 綜合症 2 型	Alport Syndrome 2, Autosomal Recessive	COL4A3, COL4A4	AR
385	常染色體隱性 Robinow 綜合症	Autosomal Recessive Robinow Syndrome	ROR2	AR
386	常染色體隱性 T-、B+、NK-重型聯合免疫缺陷症	Autosomal Recessive T Cell-Negative, B Cell-Positive, NK Cell-Negative Severe Combined Immuno Deficiency	JAK3	AR
387	常染色體隱性持續增生性原始玻璃體	Autosomal Recessive Persistent Hyperplastic Primary Vitreous	ATOH7	AR
388	常染色體隱性單純性大疱性表皮松解症 1 型	Autosomal Recessive Epidermolysis Bullosa Simplex 1	KRT14,KRT 5	AR
389	常染色體隱性蛋白 C 缺乏性血栓形成傾向	Autosomal recessive Thrombophilia due to Protein C Deficiency	PROC	AR
390	常染色體隱性蛋白 S 缺乏性血栓形成傾向	Autosomal recessive Thrombophilia due to protein S Deficiency	PROS1	AR
391	常染色體隱性耳聾 1A 型	Autosomal Recessive Deafness 1A	GJB2	AR
392	常染色體隱性耳聾 3 型	Autosomal Recessive Deafness 3	MYO15A	AR
393	常染色體隱性耳聾 4 型	Autosomal Recessive Deafness 4, with Enlarged Vestibular Aqueduct	SLC26A4	AR
394	常染色體隱性耳聾 7 型	Autosomal Recessive Deafness 7	TMC1	AR
395	常染色體隱性耳聾 8&10 型	Autosomal Recessive Deafness 8/10	TMPRSS3	AR
396	常染色體隱性耳聾 9 型	Autosomal Recessive Deafness 9	OTOF	AR
397	常染色體隱性骨硬化症 1 型	Autosomal Recessive Osteopetrosis 1	TCIRG1	AR
398	常染色體隱性骨硬化症 2 型	Autosomal Recessive Osteopetrosis 2	TNFSF11	AR
399	常染色體隱性骨硬化症 3 型	Autosomal Recessive Osteopetrosis 3	CA2	AR
400	常染色體隱性骨硬化症 4 型	Autosomal Recessive Osteopetrosis 4	CLCN7	AR
401	常染色體隱性骨硬化症 5 型	Autosomal Recessive Osteopetrosis 5	OSTM1	AR
402	常染色體隱性骨硬化症 7 型	Autosomal Recessive Osteopetrosis 7	TNFRSF11 A	AR
403	常染色體隱性脊髓小腦共濟失調 10 型	Autosomal Recessive Spinocerebellar Ataxia 10	ANO10	AR
404	常染色體隱性脊髓小腦共濟失調 13 型	Autosomal Recessive Spinocerebellar Ataxia 13	GRM1	AR
405	常染色體隱性脊髓小腦共濟失調 16 型	Autosomal Recessive Spinocerebellar Ataxia 16	STUB1	AR
406	常染色體隱性脊髓小腦共濟失調 1 型	Autosomal Recessive Spinocerebellar Ataxia 1	SETX	AR
407	常染色體隱性脊髓小腦性共濟失調 20 型	Autosomal Recessive Spinocerebellar Ataxia 20	SNX14	AR
408	常染色體隱性脊髓小腦性共濟失調 21 型	Autosomal Recessive Spinocerebellar Ataxia 21	SCYL1	AR
409	常染色體隱性脊髓小腦性共濟失調 2 型	Autosomal Recessive Spinocerebellar Ataxia 2	PMPCA	AR
410	常染色體隱性痙攣性截癱 11 型	Autosomal Recessive Spastic Paraplegia Type11	SPG11	AR
411	常染色體隱性痙攣性截癱 15 型	Autosomal Recessive Spastic Paraplegia 15	ZFYVE26	AR
412	常染色體隱性痙攣性截癱 20 型	Autosomal Recessive Spastic Paraplegia 20	SPART	AR
413	常染色體隱性痙攣性截癱 23 型	Autosomal Recessive Spastic Paraplegia 23	DSTYK	AR
414	常染色體隱性痙攣性截癱 26 型	Autosomal Recessive Spastic Paraplegia 26	B4GALNT1	AR
415	常染色體隱性痙攣性截癱 35 型	Autosomal Recessive Spastic Paraplegia 35	FA2H	AR
416	常染色體隱性痙攣性截癱 45 型	Autosomal Recessive Spastic Paraplegia 45	NT5C2	AR
417	常染色體隱性痙攣性截癱 46 型	Autosomal Recessive Spastic Paraplegia 46	GBA2	AR
418	常染色體隱性痙攣性截癱 47 型	Autosomal Recessive Spastic Paraplegia 47	AP4B1	AR
419	常染色體隱性痙攣性截癱 50 型	Autosomal Recessive Spastic Paraplegia 50	AP4M1	AR
420	常染色體隱性痙攣性截癱 52 型	Autosomal Recessive Spastic Paraplegia 52	AP4S1	AR
421	常染色體隱性痙攣性截癱 53 型	Autosomal Recessive Spastic Paraplegia 53	VPS37A	AR
422	常染色體隱性痙攣性截癱 54 型	Autosomal Recessive Spastic Paraplegia 54	DDHD2	AR
423	常染色體隱性痙攣性截癱 56 型	Autosomal Recessive Spastic Paraplegia 56	CYP2U1	AR
424	常染色體隱性痙攣性截癱 9B 型	Autosomal Recessive Spastic Paraplegia 9B	ALDH18A1	AR
425	常染色體隱性皮膚鬆弛症 1A 型	Autosomal Recessive Cutis Laxa Type1A	FBLN5	AR
426	常染色體隱性皮膚鬆弛症 1B 型	Autosomal Recessive Cutis Laxa Type1B	EFEMP2	AR
427	常染色體隱性皮膚鬆弛症 1C 型	Autosomal Recessive Cutis Laxa Type1C	LTBP4	AR
428	常染色體隱性皮膚鬆弛症 2A 型	Autosomal Recessive Cutis Laxa Type2A	ATP6V0A2	AR
429	常染色體隱性皮膚鬆弛症 2B 型	Autosomal Recessive Cutis Laxa Type2B	PYCR1	AR
430	常染色體隱性細胞色素 B 陽性慢性肉芽腫病 1 型	Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I	NCF1	AR
431	常染色體隱性細胞色素 B 陽性慢性肉芽腫病 2 型	Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type II	NCF2	AR
432	常染色體隱性細胞色素 B 陰性慢性肉芽腫病	Autosomal Recessive Cytochrome B-Negative Chronic Granulomatous Disease	CYBA	AR
433	常染色體隱性先天性肌强直	Autosomal Recessive Myotonia Congenita	CLCN1	AR
434	常染色體隱性先天性角化不良 3 型	Autosomal Recessive Dyskeratosis Congenita 3	WRAP53	AR
435	常染色體隱性小頭畸形伴脉絡膜視網膜病變 1 型	Autosomal Recessive Microcephaly and Chorioretinopathy 1	TUBGCP6	AR
436	常染色體隱性小頭畸形伴脉絡膜視網膜病變 3 型	Autosomal Recessive Microcephaly and Chorioretinopathy 3	TUBGCP4	AR
437	常染色體隱性遺傳痙攣性共濟失調 8 型伴低髓鞘化腦白質營養不良	Autosomal Recessive Spastic Ataxia 8 with Hypomyelinating Leukodystrophy	NKX6-2	AR
438	常染色體隱性遺傳沙勒瓦薩格奈痙攣性共濟失調	Autosomal Recessive Spastic Ataxia of Charlevoix – Saguenay	SACS	AR
439	常染色體隱性遺傳性魚鱗病 1 型	Autosomal Recessive Congenital Ichthyosis 1	TGM1	AR
440	常染色體隱性遺傳性魚鱗病 4A 型	Autosomal Recessive Congenital Ichthyosis 4A	ABCA12	AR
441	常染色體隱性遺傳性魚鱗病 4B 型	Autosomal Recessive Congenital Ichthyosis 4B	ABCA12	AR
442	常染色體隱性遺傳性魚鱗病 5 型	Autosomal Recessive Congenital Ichthyosis 5	CYP4F22	AR
443	常染色體隱性遺傳性魚鱗病 6 型	Autosomal Recessive Congenital Ichthyosis 6	NIPAL4	AR
444	常染色體隱性遺傳性魚鱗病 9 型	Autosomal Recessive Congenital Ichthyosis 9	CERS3	AR
445	常染色體隱性營養不良性大疱性表皮松解	Autosomal Recessive Epidermolysis Bullosa Dystrophica	COL7A1	AR
446	常染色體隱性原發性肥大性骨關節病 1 型	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	HPGD	AR
447	常染色體隱性遠端脊肌萎縮症 1 型	Autosomal Recessive Distal Spinal Muscular Atrophy 1	IGHMBP2	AR
448	常染色體隱性智力發育障礙 18 型伴或不伴癲癇	Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy	MED23	AR
449	常染色體隱性智力發育障礙 27 型	Intellectual developmental disorder, autosomal recessive 27	LINS1	AR
450	常染色體隱性智力發育障礙 38 型	Intellectual developmental disorder, autosomal recessive 38	HERC2	AR
451	常染色體隱性智力發育障礙 57 型	Intellectual developmental disorder, autosomal recessive 57	MBOAT7	AR
452	常染色體隱性智力障礙 13 型	Autosomal Recessive Mental Retardation 13	TRAPPC9	AR
453	常染色體隱性智力障礙 15 型	Autosomal Recessive Mental Retardation 15	MAN1B1	AR
454	常染色體隱性智力障礙 36 型	Autosomal Recessive Mental Retardation 36	ADAT3	AR
455	常染色體隱性智力障礙 39 型	Autosomal Recessive Mental Retardation 39	TTI2	AR
456	常染色體隱性智力障礙 3 型	Autosomal Recessive Mental Retardation 3	CC2D1A	AR
457	常染色體隱性智力障礙 41 型	Autosomal Recessive Mental Retardation 41	KPTN	AR
458	常染色體隱性智力障礙 42 型	Autosomal Recessive Mental Retardation 42	PGAP1	AR
459	常染色體隱性智力障礙 44 型	Autosomal Recessive Mental Retardation 44	METTL23	AR
460	常染色體隱性智力障礙 49 型	Autosomal Recessive Mental Retardation 49	GPT2	AR
461	常染色體隱性智力障礙 58 型	Autosomal Recessive Mental Retardation 58	ELP2	AR
462	常染色體隱性智力障礙 5 型	Autosomal Recessive Mental Retardation 5	NSUN2	AR
463	常染色體隱性智力障礙 7 型	Autosomal Recessive Mental Retardation 7	TUSC3	AR
464	常染色體隱性重型聯合免疫缺陷症，B 細胞陰性	Severe Combined Immuno Deficiency, B Cell-negative	RAG1, RAG2	AR
465	成骨不全 15 型	Osteogenesis Imperfecta TypeXV	WNT1	AR
466	成骨不全 6 型	Osteogenesis Imperfecta TypeVI	SERPINF1	AR
467	成骨不全 8 型	Osteogenesis Imperfecta TypeVIII	P3H1	AR
468	成骨不全 X 型	Osteogenesis imperfecta, TypeX	SERPINH1	AR
469	弛緩不能-腎上腺缺失-無泪綜合症	Achalasia-Addisonianism-Alacrima Syndrome	AAAS	AR
470	出生後進行性小頭畸形伴癲癇發作和腦萎縮	Postnatal Progressive Microcephaly With Seizures And Brain Atrophy	MED17	AR
471	出血性腦損傷、室管膜下鈣化伴白內障	Hemorrhagic Destruction of the Brain, Subependymal Calcification and Cataracts	JAM3	AR
472	唇裂/腭裂-外胚層發育不良綜合症	Cleft lip/palate-ectodermal Dysplasia Syndrome	NECTIN1	AR
473	促腎上腺皮質激素缺乏症	Adrenocorticotropic hormone Deficiency	TBX19	AR
474	大腦葉酸轉運障礙性神經退行性病	Neurodegeneration due to Cerebral Folate Transport Deficiency	FOLR1	AR
475	大疱性表皮松解伴幽門閉鎖	Epidermolysis Bullosa with Pyloric Atresia	ITGB4,ITG A6	AR
476	大頭畸形、脫髮、皮膚鬆馳及脊柱側凸綜合症 (MACS 綜合症)	Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis(MACS Syndrome)	RIN2	AR
477	帶狀鈣化伴簡化性迂回伴多小腦回畸形	Band-Like Calcification with Simplified Gyration and Polymicrogyria	OCLN	AR
478	帶狀灰質異位	Band Heterotopia	EML1	AR
479	單純性大疱性表皮松解伴幽門閉鎖	Epidermolysis Bullosa Simplex with Pyloric Atresia	PLEC	AR
480	單純性小眼畸形 8 型	Isolated Microphthalmia 8	ALDH1A3	AR
481	單羧酸轉運蛋白 1 缺乏症	Monocarboxylate Transporter 1 Deficiency	SLC16A1	AR
482	蛋白酶相關自身炎症反應綜合症 1 型	Proteasome-Associated Autoinflammatory Syndrome 1	PSMB8	AR
483	低促性腺激素性性腺功能减退症 1 型伴或不伴嗅覺喪失（Kallmann 綜合症 1 型）	Hypogonadotropic Hypogonadism 1 with or without Anosmia (Kallmann Syndrome 1)	ANOS1	XL
484	低髓鞘化腦白質營養不良 10 型	Hypomyelinating Leukodystrophy 10	PYCR2	AR
485	低髓鞘化腦白質營養不良 12 型	Hypomyelinating Leukodystrophy 12	VPS11	AR
486	低髓鞘化腦白質營養不良 14 型	Hypomyelinating Leukodystrophy 14	UFM1	AR
487	低髓鞘化腦白質營養不良 3 型	Hypomyelinating Leukodystrophy 3	AIMP1	AR
488	低髓鞘化腦白質營養不良 4 型	Hypomyelinating Leukodystrophy 4	HSPD1	AR
489	低髓鞘化腦白質營養不良 5 型	Hypomyelinating Leukodystrophy 5	FAM126A	AR
490	低髓鞘化腦白質營養不良 7 型伴或不伴少牙畸形和（或）低促性腺素性功能减退症	Hypomyelinating Leukodystrophy 7 with or without Oligodontia and/or Hypogonadotropic Hypogonadism	POLR3A	AR
491	低髓鞘化腦白質營養不良 8 型	Hypomyelinating Leukodystrophy 8	POLR3B	AR
492	癲癇、耳聾及智力障礙綜合症	Epilepsy, Hearing Loss, And Mental Retardation Syndrome	SPATA5	AR
493	癲癇伴變異型學習及行爲障礙	Epilepsy with Variable Learning Disabilities and Behavior Disorders	SYN1	XL
494	癲癇發作-感音神經性耳聾-共濟失調-視網膜色素變性-智力障礙-電解質失衡綜合症	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome	KCNJ10	AR
495	動脉迂曲綜合症	Arterial tortuosity Syndrome	SLC2A10	AR
496	短肋胸廓發育不良伴多指綜合症 14 型	Short-Rib Thoracic Dysplasia 14 With Polydactyly	KIAA0586	AR
497	短肋胸廓發育不良伴多指綜合症 15 型	Short-rib Thoracic Dysplasia 15 with Polydactyly	DYNC2LI1	AR
498	短肋胸廓發育不良伴或不伴多指綜合症 10 型	Short-rib Thoracic Dysplasia 10 with or without Polydactyly	IFT172	AR
499	短肋胸廓發育不良伴或不伴多指綜合症 11 型	Short-rib Thoracic Dysplasia 11 with or without Polydactyly	DYNC2I2	AR
500	短肋胸廓發育不良伴或不伴多指綜合症 13 型	Short-rib Thoracic Dysplasia 13 with or without Polydactyly	CEP120	AR
501	短肋胸廓發育不良伴或不伴多指綜合症 2 型	Short-rib Thoracic Dysplasia 2 with or without Polydactyly	IFT80	AR
502	短肋胸廓發育不良伴或不伴多指綜合症 3 型	Short-rib Thoracic Dysplasia 3 with or without Polydactyly	DYNC2H1	AR
503	短肋胸廓發育不良伴或不伴多指綜合症 4 型	Short-rib Thoracic Dysplasia 4 with or without Polydactyly	TTC21B	AR
504	短肋胸廓發育不良伴或不伴多指綜合症 6 型	Short-rib Thoracic Dysplasia 6 with or without Polydactyly	NEK1	AR
505	短肋胸廓發育不良伴或不伴多指綜合症 7 型	Short-rib Thoracic Dysplasia 7 with or without Polydactyly	WDR35	AR
506	短肋胸廓發育不良伴或不伴多指綜合症 8 型	Short-rib Thoracic Dysplasia 8 with or without Polydactyly	DYNC2I1	AR
507	短肋胸廓發育不良伴或不伴多指綜合症 9 型	Short-rib Thoracic Dysplasia 9 with or Without Polydactyly	IFT140	AR
508	短肢、小頭畸形和內分泌功能異常	Short Stature, Microcephaly, And Endocrine Dysfunction	XRCC4	AR
509	多發性骨骺發育不良伴早發糖尿病	Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus	EIF2AK3	AR
510	多發性骨溶解、結節病及關節病	Multicentric Osteolysis, Nodulosis, and Arthropathy	MMP2	AR
511	多發性關節脫位、身材矮小和顱面畸形伴或不伴先天性心臟缺陷	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	B3GAT3	AR
512	多發性硫酸脂酶缺乏症	Multiple Sulfatase Deficiency	SUMF1	AR
513	多發性先天性畸形-張力减退-癲癇綜合症 1 型	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	PIGN	AR
514	多發性先天性畸形-張力减退-癲癇綜合症 3 型	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	PIGT	AR
515	多發性翼狀膜綜合症	Multiple Pterygium Syndrome, Escobar variant	CHRNG	AR
516	多發致死性翼狀胬肉綜合症	Multiple Pterygium Syndrome, Lethal Type	CHRNA1	AR
517	多囊腎病 4 型伴或不伴多囊肝	Polycystic Kidney Disease 4 with or without Polycystic Liver Disease	PKHD1	AR
518	多微小軸空病	Multiminicore Disease	RYR1	AR
519	多系統自身免疫病伴面部畸形	Multisystem Autoimmune Disease With Facial Dysmorphism	ITCH	AR
520	多綫粒體功能障礙綜合症 1 型	Multiple Mitochondrial Dysfunctions Syndrome 1	NFU1	AR
521	多綫粒體功能障礙綜合症 2 型	Multiple Mitochondrial Dysfunctions Syndrome 2	BOLA3	AR
522	多綫粒體功能障礙綜合症 3 型	Multiple Mitochondrial Dysfunctions Syndrome 3	IBA57	AR
523	多綫粒體功能障礙綜合症 4 型	Multiple Mitochondrial Dysfunctions Syndrome 4	ISCA2	AR
524	多小腦回畸形伴癲癇發作	Polymicrogyria with Seizures	RTTN	AR
525	兒茶酚胺敏感性多形性室性心動過速 2 型	Catecholaminergic Polymorphic Ventricular Tachycardia 2	CASQ2	AR
526	兒茶酚胺敏感性多形性室性心動過速 5 型伴或不伴肌無力	Catecholaminergic Polymorphic Ventricular Tachycardia 5, with or without muscle weakness	TRDN	AR
527	兒童期發病的結節性多動脉炎	Childhood-Onset Polyarteritis Nodosa	ADA2	AR
528	兒童型低磷酸酯酶症	Hypophosphatasia, Childhood	ALPL	AR
529	兒童型神經退行性病變伴共濟失調、肌張力障礙、凝視麻痹	Childhood-onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy	SQSTM1	AR
530	發育遲緩伴短肢、畸形特徵和頭髮稀疏	Developmental Delay With Short Stature, Dysmorphic Features, and Sparse Hair	DPH1	AR
531	發育延遲、禿髮、埋伏牙及視神經萎縮綜合症	GAPO Syndrome	ANTXR1	AR
532	法國-加拿大型 Leigh 綜合症	Leigh Syndrome, French-Canadian Type	LRPPRC	AR
533	反復發作代謝性腦肌病伴橫紋肌溶解-心律失常-神經變性	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	TANGO2	AR
534	範可尼貧血互補群 A	Fanconi anemia, complementation Group A	FANCA	AR
535	範可尼貧血互補群 B	Fanconi anemia, complementation Group B	FANCB	XL
536	範可尼貧血互補群 C	Fanconi anemia, complementation Group C	FANCC	AR
537	範可尼貧血互補群 D2	Fanconi anemia, complementation Group D2	FANCD2	AR
538	範可尼貧血互補群 E	Fanconi anemia, complementation Group E	FANCE	AR
539	範可尼貧血互補群 F	Fanconi anemia, complementation Group F	FANCF	AR
540	範可尼貧血互補群 G	Fanconi anemia, complementation Group G	FANCG	AR
541	範可尼貧血互補群 I	Fanconi anemia, complementation Group I	FANCI	AR
542	範可尼貧血互補群 L	Fanconi anemia, complementation Group L	FANCL	AR
543	範可尼貧血互補群 Q	Fanconi anemia, complementation Group Q	ERCC4	AR
544	範可尼貧血互補群 T	Fanconi anemia, complementation Group T	UBE2T	AR
545	非 Herlitz 型交界型大疱性表皮松解	Non-Herlitz TypeJunctional Epidermolysis Bullosa	COL17A1	AR
546	非光敏感性毛髮低硫營養不良綜合症 4 型	Nonphotosensitive Trichothiodystrophy 4	MPLKIP	AR
547	肺表面活性劑功能障礙 1 型	Pulmonary Surfactant Metabolism Dysfunction 1	SFTPB	AR
548	肺表面活性劑功能障礙 3 型	Pulmonary Surfactant Metabolism Dysfunction 3	ABCA3	AR
549	肺靜脉閉塞病 2 型	Pulmonary Venoocclusive Disease 2	EIF2AK4	AR
550	楓糖尿病 1A 型	Maple Syrup Urine Disease Type1A	BCKDHA	AR
551	楓糖尿病 1B 型	Maple Syrup Urine Disease Type1B	BCKDHB	AR
552	楓糖尿病 2 型	Maple Syrup Urine Disease, Type2	DBT	AR
553	楓糖尿病 3 型	Maple Syrup Urine Disease Type3	DLD	AR
554	複合型氧化磷酸化缺陷症 10 型	Combined Oxidative Phosphorylation Deficiency 10	MTO1	AR
555	複合型氧化磷酸化缺陷症 11 型	Combined Oxidative Phosphorylation Deficiency 11	RMND1	AR
556	複合型氧化磷酸化缺陷症 12 型	Combined Oxidative Phosphorylation Deficiency 12	EARS2	AR
557	複合型氧化磷酸化缺陷症 14 型	Combined Oxidative Phosphorylation Deficiency 14	FARS2	AR
558	複合型氧化磷酸化缺陷症 15 型	Combined Oxidative Phosphorylation Deficiency 15	MTFMT	AR
559	複合型氧化磷酸化缺陷症 17 型	Combined Oxidative Phosphorylation Deficiency 17	ELAC2	AR
560	複合型氧化磷酸化缺陷症 1 型	Combined Oxidative Phosphorylation Deficiency 1	GFM1	AR
561	複合型氧化磷酸化缺陷症 20 型	Combined Oxidative Phosphorylation Deficiency 20	VARS2	AR
562	複合型氧化磷酸化缺陷症 23 型	Combined Oxidative Phosphorylation Deficiency 23	GTPBP3	AR
563	複合型氧化磷酸化缺陷症 24 型	Combined Oxidative Phosphorylation Deficiency 24	NARS2	AR
564	複合型氧化磷酸化缺陷症 27 型	Combined Oxidative Phosphorylation Deficiency 27	CARS2	AR
565	複合型氧化磷酸化缺陷症 35 型	Combined Oxidative Phosphorylation Deficiency 35	TRIT1	AR
566	複合型氧化磷酸化缺陷症 3 型	Combined Oxidative Phosphorylation Deficiency 3	TSFM	AR
567	複合型氧化磷酸化缺陷症 4 型	Combined Oxidative Phosphorylation Deficiency 4	TUFM	AR
568	複合型氧化磷酸化缺陷症 7 型	Combined Oxidative Phosphorylation Deficiency 7	MTRFR	AR
569	複合型氧化磷酸化缺陷症 8 型	Combined Oxidative Phosphorylation Deficiency 8	AARS2	AR
570	腹瀉 5 型伴先天性腸病	Diarrhea 5 With Congenital Tufting Enteropathy	EPCAM	AR
571	腹瀉 7 型	Diarrhea 7	DGAT1	AR
572	腹瀉伴微絨毛萎縮 2 型	Diarrhea with Microvillus Atrophy 2	MYO5B	AR
573	甘氨酸腦病	Glycine Encephalopathy	AMT, GLDC	AR
574	甘油激酶缺乏症	Glycerol Kinase Deficiency	GK	XL
575	杆狀體肌病 10 型	Nemaline Myopathy 10	LMOD3	AR
576	杆狀體肌病 1 型	Nemaline Myopathy 1	TPM3	AR
577	杆狀體肌病 2 型	Nemaline Myopathy 2	NEB	AR
578	杆狀體肌病 5 型	Nemaline Myopathy 5	TNNT1	AR
579	杆狀體肌病 7 型	Nemaline Myopathy 7	CFL2	AR
580	杆狀體肌病 8 型	Nemaline Myopathy 8	KLHL40	AR
581	杆狀體肌病 9 型	Nemaline Myopathy 9	KLHL41	AR
582	肝豆狀核變性	Wilson Disease	ATP7B	AR
583	肝靜脉梗阻症伴免疫缺陷	Hepatic Veno-Occlusive Disease with ImmunoDeficiency	SP110	AR
584	高 IgE 綜合症	Hyper IgE Syndrome	DOCK8	AR
585	高胱氨酸尿症伴巨幼紅細胞貧血 cblG 型	Homocystinuria-Megaloblastic Anemia cblG type	MTR	AR
586	高磷酸脂症伴智力障礙 1 型	Hyperphosphatasia with Mental Retardation Syndrome 1	PIGV	AR
587	高磷酸脂症伴智力障礙 2 型	Hyperphosphatasia with Mental Retardation Syndrome 2	PIGO	AR
588	高磷酸脂症伴智力障礙 3 型	Hyperphosphatasia with Mental Retardation Syndrome 3	PGAP2	AR
589	高磷酸脂症伴智力障礙 4 型	Hyperphosphatasia with Mental Retardation Syndrome 4	PGAP3	AR
590	高錳血症伴肌張力失調 1 型	Hypermanganesemia With Dystonia 1	SLC30A10	AR
591	高錳血症伴肌張力失調 2 型	Hypermanganesemia with dystonia 2	SLC39A14	AR
592	高鳥氨酸血症-高氨血症-同型瓜氨酸尿症	Hyperornithinemia-Hyperammonemia-Homocitrul linuria Syndrome	SLC25A15	AR
593	高尿酸血症、肺性高血壓、腎衰竭和碱中毒綜合症	Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome	SARS2	AR
594	高脯胺酸血症 1 型	Hyperprolinemia TypeI	PRODH	AR
595	高鐵血紅蛋白還原酶缺乏性高鐵血紅蛋白血症	Methemoglobinemia Due to Deficiency of Methemoglobin Reductase	CYB5R3	AR
596	共濟失調伴動眼不能 1 型	Ataxia with Oculomotor Apraxia Type1	APTX	AR
597	共濟失調伴維生素 E 缺乏症	Ataxia with vitamin E Deficiency	TTPA	AR
598	共濟失調性毛細血管擴張樣病 1 型	Ataxia-Telangiectasia-Like Disorder 1	MRE11	AR
599	共濟失調性毛細血管擴張症	Ataxia-telangiectasia	ATM	AR
600	孤立型小眼畸形 3	Microphthalmia, Isolated 3	RAX	AR
601	谷氨酸亞胺基甲基轉移酶缺乏症	Glutamate Formiminotransferase Deficiency	FTCD	AR
602	穀固醇血症	Sitosterolemia	ABCG5, ABCG8	AR
603	谷胱甘肽合成酶缺乏症	Glutathione Synthetase Deficiency	GSS	AR
604	骨髓衰竭綜合症 2 型	Bone Marrow Failure Syndrome 2	ERCC6L2	AR
605	骨髓衰竭綜合症 3 型	Bone Marrow Failure Syndrome 3	DNAJC21	AR
606	骨硬化性狹窄 1 型	Sclerosteosis 1	SOST	AR
607	骨質疏鬆症-假神經膠質瘤綜合症	Osteoporosis-pseudoglioma Syndrome	LRP5	AR
608	瓜氨酸血症 1 型	Citrullinemia	ASS1	AR
609	胍乙酸轉甲基酶缺乏症	Cerebral Creatine Deficiency Syndrome 2	GAMT	AR
610	關節攣縮、腎功能不全及膽汁淤積綜合症 1 型	Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1	VPS33B	AR
611	關節攣縮、腎功能不全及膽汁淤積綜合症 2 型	Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2	VIPAS39	AR
612	關節攣縮、智力障礙和癲癇發作	Arthrogryposis, Mental Retardation and Seizures	SLC35A3	AR
613	光敏感性毛髮低硫營養不良綜合症 3 型	Photosensitive Trichothiodystrophy 3	GTF2H5	AR
614	胱硫醚β合成酶缺乏性高胱氨酸尿症	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	CBS	AR
615	果糖-1,6-二磷酸酶缺乏症	Fructose 1,6 Bisphosphatase Deficiency	FBP1	AR
616	過氧化物酶體生物合成障礙 10A 型	Peroxisome Biogenesis Disorder 10A	PEX3	AR
617	過氧化物酶體生物合成障礙 11A 型	Peroxisome Biogenesis Disorder 11A	PEX13	AR
618	過氧化物酶體生物合成障礙 14B 型	Peroxisome Biogenesis Disorder 14B	PEX11B	AR
619	過氧化物酶體生物合成障礙 1A 型	Peroxisome Biogenesis Disorder 1A(Zellweger)	PEX1	AR
620	過氧化物酶體生物合成障礙 2A 型	Peroxisome Biogenesis Disorder 2A	PEX5	AR
621	過氧化物酶體生物合成障礙 3A 型	Peroxisome Biogenesis Disorder 3A(Zellweger)	PEX12	AR
622	過氧化物酶體生物合成障礙 4A 型	Peroxisome Biogenesis Disorder 4A	PEX6	AR
623	過氧化物酶體生物合成障礙 5A 型	Peroxisome Biogenesis Disorder 5A	PEX2	AR
624	過氧化物酶體生物合成障礙 6A 型	Peroxisome Biogenesis Disorder 6A(Zellweger)	PEX10	AR
625	過氧化物酶體生物合成障礙 7A 型	Peroxisome Biogenesis Disorder 7A	PEX26	AR
626	過氧化物酶體生物合成障礙 8A 型	Peroxisome Biogenesis Disorder 8A(Zellweger)	PEX16	AR
627	過氧化物酶醯基輔酶 A 氧化酶缺乏症	Peroxisomal Acyl-CoA Oxidase Deficiency	ACOX1	AR
628	頜骨顔面發育不全綜合症 3 型	Treacher Collins Syndrome 3	POLR1C	AR
629	後柱共濟失調伴色素性視網膜炎	Ataxia, Posterior Column, with Retinitis Pigmentosa	FLVCR1	AR
630	琥珀酸半醛脫氫酶缺乏症	Succinic Semialdehyde Dehydrogenase Deficiency	ALDH5A1	AR
631	華沙斷裂綜合症	Warsaw Breakage Syndrome	DDX11	AR
632	黃素腺嘌呤二核苷酸合成酶缺乏所致脂質沉積性肌病	Lipid Storage Myopathy due to Favin Adenine Dinucleotide Synthetase Deficiency	FLAD1	AR
633	肌病、乳酸酸中毒及鐵粒幼紅細胞性貧血 1 型	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	PUS1	AR
634	肌病、乳酸酸中毒及鐵粒幼紅細胞性貧血 2 型	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	YARS2	AR
635	肌病伴錐體外束症	Myopathy With Extrapyramidal Signs	MICU1	AR
636	肌肝腦眼侏儒症	Mulibrey nanism	TRIM37	AR
637	肌攣縮型 Ehlers-Danlos 綜合症 1 型	Ehlers-Danlos Syndrome, Musculocontractural Type1	CHST14	AR
638	肌營養不良-糖基化營養不良(先天性腦眼異常)7A型	Muscular Dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), TypeA, 7	CRPPA	AR
639	肌原纖維肌病 7 型	Myofibrillar Myopathy 7	KY	AR
640	肌原纖維肌病 8 型	Myofibrillar Myopathy 8	PYROXD1	AR
641	極長鏈醯基輔酶 A 脫氫酶缺乏症	Acyl-CoA Dehydrogenase Deficiency, Very Long- Chain	ACADVL	AR
642	急性復發性肌紅蛋白尿	Acute Recurrent Myoglobinuria	LPIN1	AR
643	脊髓性肌肉萎縮症	Spinal Muscular Atrophy	SMN1	AR
644	脊柱-軀幹骨-幹骺端發育不良	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	NKX3-2	AR
645	脊柱-腕-跗骨融合症	Spondylocarpotarsal Synostosis Syndrome	FLNB	AR
646	脊柱-眼綜合症	Spondyloocular Syndrome	XYLT2	AR
647	脊椎幹骺端結構不良伴視錐-視杆營養不良	Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	PCYT1A	AR
648	脊椎肋骨發育不全 1 型	Spondylocostal Dysostosis 1	DLL3	AR
649	脊椎肋骨發育不全 2 型	Spondylocostal Dysostosis 2	MESP2	AR
650	脊椎肋骨發育不全 4 型	Spondylocostal Dysostosis 4	HES7	AR
651	家族性地中海熱	Familial Mediterranean Fever	MEFV	AR
652	家族性肝硬化	Familial Cirrhosis	KRT8	AR
653	家族性高膽固醇血症 1 型	Hypercholesterolemia, Familial,1	LDLR	AR
654	家族性高胰島素血症 1 型	Familial Hyperinsulinemic Hypoglycemia 1	ABCC8	AR
655	家族性高胰島素血症 2 型	Familial Hyperinsulinemic Hypoglycemia 2	KCNJ11	AR
656	家族性高胰島素血症 4 型	Familial Hyperinsulinemic Hypoglycemia 4	HADH	AR
657	家族性卵磷脂膽固醇酞基轉移酶缺乏症	Familial Lecithin Cholesterol Acyltransferase Deficiency	LCAT	AR
658	家族性氯化物性腹瀉	Familial Chloride Diarrhea	SLC26A3	AR
659	家族性念珠菌病 2 型	Familial Candidiasis 2	CARD9	AR
660	家族性噬血細胞性淋巴組織細胞增多症 2 型	Hemophagocytic Lymphohistiocytosis, Familial, 2	PRF1	AR
661	家族性噬血細胞性淋巴組織細胞增多症 3 型	Hemophagocytic Lymphohistiocytosis, Familial, 3	UNC13D	AR
662	家族性噬血細胞性淋巴組織細胞增多症 4 型	Hemophagocytic Lymphohistiocytosis, Familial, 4	STX11	AR
663	家族性噬血細胞性淋巴組織細胞增多症 5 型	Hemophagocytic Lymphohistiocytosis, Familial, 5	STXBP2	AR
664	家族性腫瘤樣鈣沉著症	Familial Normophosphatemic Tumoral Calcinosis	SAMD9	AR
665	甲基丙二酸單醯輔酶 A 差向異構酶缺乏症	MCEE-Related Methylmalonic Acidemia	MCEE	AR
666	甲基丙二酸尿症伴同型半胱氨酸尿症 CblF 型	Methylmalonic Aciduria and Homocystinuria CblF Type	LMBRD1	AR
667	甲基丙二酸尿症和同型半胱氨酸血症 cblX 型	Methylmalonic Aciduria and Homocysteinemia, cblX Type	HCFC1	XL
668	甲基丙二酸血症 cblA 型	MMAA-Related Methylmalonic Acidemia	MMAA	AR
669	甲基丙二酸血症 cblB 型	MMAB-Related Methylmalonic Acidemia	MMAB	AR
670	甲基丙二酸血症 Mut 型	MUT-Related Methylmalonic Acidemia	MMUT	AR
671	甲基丙二酸血症伴同型半胱氨酸血症 cblC 型	Methylmalonic Aciduria and Homocystinuria cblC Type	MMACHC	AR
672	甲基丙二酸血症伴同型半胱氨酸血症 cblD 型	Methylmalonic Aciduria and Homocystinuria cblD Type	MMADHC	AR
673	甲羥戊酸尿症	Mevalonic Aciduria	MVK	AR
674	甲狀腺分泌障礙 5 型	Thyroid dyshormonogenesis 5	DUOXA2	AR
675	甲狀腺分泌障礙 6 型	Thyroid dyshormonogenesis 6	DUOX2	AR
676	假性醛固酮减少症 1 型	Pseudohypoaldosteronism, TypeI	SCNN1A,SC NN1B	AR
677	間質性肺病和肝病	Interstitial Lung and Liver Disease	MARS1	AR
678	肩骨發育不良 1 型	Omo Dysplasia 1	GPC6	AR
679	椒鹽發育倒退綜合症	Salt and Pepper Developmental Regression Syndrome, Autosomal recessive	ST3GAL5	AR
680	角膜脆弱綜合症 1 型	Brittle Cornea Syndrome 1	ZNF469	AR
681	角膜脆弱綜合症 2 型	Brittle Cornea Syndrome 2	PRDM5	AR
682	進行性肌陣攣性癲癇 1A 型	Progressive Myoclonic Epilepsy 1A	CSTB	AR
683	進行性肌陣攣性癲癇 1B 型	Progressive Myoclonic Epilepsy 1B	PRICKLE1	AR
684	進行性肌陣攣性癲癇 3 型	Progressive Myoclonic Epilepsy 3	KCTD7	AR
685	進行性肌陣攣性癲癇 4 型	Progressive Myoclonic Epilepsy 4	SCARB2	AR
686	進行性肌陣攣性癲癇 6 型	Progressive Myoclonic Epilepsy 6	GOSR2	AR
687	進行性家族性肝內膽汁淤積症 1 型	Progressive Familial Intrahepatic Cholestasis 1	ATP8B1	AR
688	進行性家族性肝內膽汁淤積症 2 型	Progressive Familial Intrahepatic Cholestasis 2	ABCB11	AR
689	進行性家族性肝內膽汁淤積症 3 型	Progressive Familial Intrahepatic Cholestasis 3	ABCB4	AR
690	進行性家族性肝內膽汁淤積症 4 型	Progressive Familial Intrahepatic Cholestasis 4	TJP2	AR
691	進行性假肥大性肌營養不良	Duchenne Muscular Dystrophy	DMD	XL
692	進行性假風濕性發育不良	Progressive Pseudorheumatoid Dysplasia	CCN6	AR
693	進行性早髮型腦病伴腦水腫和（或）腦白質病	Encephalopathy, Progressive, Early-onset,with Brain Edema and/or Leukoencephalopathy	NAXE	AR
694	近端腎小管性酸中毒伴眼部畸形	Proximal Renal Tubular Acidosis with Ocular Abnormalities	SLC4A4	AR
695	精氨酸琥珀酸尿症	Argininosuccinic Aciduria	ASL	AR
696	精氨酸或甘氨酸脒基轉移酶缺乏症	Cerebral creatine Deficiency Syndrome 3	GATM	AR
697	精氨酸酶缺乏症	Argininemia	ARG1	AR
698	痙攣性共濟失調 2 型	Spastic Ataxia 2	KIF1C	AR
699	痙攣性共濟失調 3 型	Spastic Ataxia 3	MARS2	AR
700	痙攣性截癱及精神運動性阻滯伴或不伴癲癇	Spastic Paraplegia And Psychomotor Retardation With or Without Seizures	HACE1	AR
701	巨腦性腦白質營養不良伴皮質下囊腫 1 型	Megalencephalic Leukoencephalopathy with Subcortical Cysts 1	MLC1	AR
702	巨腦性腦白質營養不良伴皮質下囊腫 2A 型	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A	HEPACAM	AR
703	巨軸索神經病 1 型	Giant Axonal Neuropathy-1	GAN	AR
704	口面指綜合症 14 型	Orofaciodigital Syndrome XIV	C2CD3	AR
705	口面指綜合症 16 型	Orofaciodigital Syndrome XVI	TMEM107	AR
706	口面指綜合症 5 型	Orofaciodigital Syndrome V	DDX59	AR
707	擴張型心肌病伴毛髮捲曲及皮膚角化病	Dilated Cardiomyopathy With Woolly Hair And Keratoderma	DSP	AR
708	拉隆氏侏儒症	Laron Dwarfism	GHR	AR
709	賴氨酸尿性蛋白耐受不良	Lysinuric Protein Intolerance	SLC7A7	AR
710	老年樣皮膚伴骨發育不良	Geroderma Osteodysplasticum	GORAB	AR
711	酪氨酸血症 1 型	Tyrosinemia Type1	FAH	AR
712	酪氨酸血症 2 型	Tyrosinemia TypeII	TAT	AR
713	酪氨酸血症 3 型	Tyrosinemia TypeIII	HPD	AR
714	酪蛋白激酶綜合症	CK Syndrome	NSDHL	XL
715	雷夫叙姆病	Refsum Disease	PHYH	AR
716	類早老型 Ehlers-Danlos 綜合症 1 型	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	B4GALT7	AR
717	冷誘導性出汗綜合症 1 型	Cold-induced Sweating Syndrome 1	CRLF1	AR
718	冷誘導性出汗綜合症 2 型	Cold-induced Sweating Syndrome 2	CLCF1	AR
719	聯合免疫缺陷和巨幼細胞性貧血伴或不伴高同型半胱氨酸血症	Combined Immuno Deficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia	MTHFD1	AR
720	聯合性垂體激素缺乏症 1 型	Combined Pituitary Hormone Deficiency 1	POU1F1	AR
721	聯合性垂體激素缺乏症 2 型	Combined Pituitary Hormone Deficiency 2	PROP1	AR
722	聯合性垂體激素缺乏症 3 型	Combined Pituitary Hormone Deficiency 3	LHX3	AR
723	鐮狀細胞性貧血症	Sickle Cell Anemia	HBB	AR
724	鏈甾醇症	Desmosterolosis	DHCR24	AR
725	裂掌、畸足 6 型	Split-Hand/Foot Malformation 6	WNT10B	AR
726	淋巴增殖綜合症 1 型	Lymphoproliferative Syndrome 1	ITK	AR
727	淋巴增殖綜合症 2 型	Lymphoproliferative Syndrome 2	CD27	AR
728	磷酸丙糖異構酶缺乏症	Triosephosphate Isomerase Deficiency	TPI1	AR
729	磷酸甘油酸激酶缺乏症	Phosphoglycerate Kinase Deficiency	PGK1	XL
730	磷酸絲氨酸磷酸酶缺乏症	Phosphoserine Phosphatase Deficiency	PSPH	AR
731	硫胺反應性巨幼細胞性貧血	Thiamine-Responsive Megaloblastic Anemia Syndrome	SLC19A2	AR
732	硫胺素代謝功能障礙綜合症 4 型（雙邊紋狀體變性和進行性多發性神經病型）	Thiamine etabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)	SLC25A19	AR
733	硫胺素代謝功能障礙綜合症 5 型（發作性腦病型）	Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy type)	TPK1	AR
734	硫半胱胺酸尿症	Sulfocysteinuria	SUOX	AR
735	顱額鼻發育不良症	Craniolenticulosutural Dysplasia	SEC23A	AR
736	顱額鼻綜合症	Craniofrontonasal Syndrome	EFNB1	XL
737	顱縫早閉伴牙齒發育異常	Craniosynostosis and Dental Anomalies	IL11RA	AR
738	顱骨外胚層發育不良 1 型	Cranioectodermal Dysplasia 1	IFT122	AR
739	顱面異常、骨胳異常伴精神遲滯綜合症	Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome	TMCO1	AR
740	裸淋巴細胞綜合症 2 型互補群 A	Bare Lymphocyte Syndrome, Type II, Complementation Group A	CIITA	AR
741	裸淋巴細胞綜合症 2 型互補群 B	Bare Lymphocyte Syndrome, Type II, Complementation Group B	RFXANK	AR
742	裸淋巴細胞綜合症 2 型互補群 D	Bare lymphocyte Syndrome, Type II, Complementation Group D	RFXAP	AR
743	慢性心房腸道節律失常綜合症	Chronic Atrial And Intestinal Dysrhythmia	SGO1	AR
744	毛髮、肝及小腸綜合症 1 型	Trichohepatoenteric Syndrome 1	TTC37	AR
745	毛髮、肝及小腸綜合症 2 型	Trichohepatoenteric Syndrome 2	SKIV2L	AR
746	毛囊性魚鱗病-脫髮-畏光綜合症	Ichthyosis Follicularis-Atrichia-Photophobia Syndrome	MBTPS2	XL
747	彌漫性小腦萎縮伴難治性癲癇發作-進行性小頭畸形綜合症	Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy	QARS1	AR
748	免疫骨胳發育不良伴神經發育異常	Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities	EXTL3	AR
749	免疫缺陷伴 IgM 增高 1 型	ImmunoDeficiency with Hyper-IgM, Type1	CD40LG	XL
750	免疫缺陷伴 IgM 增高 3 型	ImmunoDeficiency with Hyper-IgM, Type3	CD40	AR
751	免疫缺陷-著絲粒不穩定-面部異常綜合症 1 型	ImmunoDeficiency-centromeric Instability-facial Anomalies Syndrome 1	DNMT3B	AR
752	免疫缺陷-著絲粒不穩定-面部異常綜合症 2 型	ImmunoDeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	ZBTB24	AR
753	免疫缺陷症 10 型	ImmunoDeficiency 10	STIM1	AR
754	免疫缺陷症 11A 型	ImmunoDeficiency 11A	CARD11	AR
755	免疫缺陷症 12 型	ImmunoDeficiency 12	MALT1	AR
756	免疫缺陷症 15 型	ImmunoDeficiency 15B	IKBKB	AR
757	免疫缺陷症 19 型	ImmunoDeficiency 19	CD3D	AR
758	免疫缺陷症 23 型	ImmunoDeficiency 23	PGM3	AR
759	免疫缺陷症 24 型	ImmunoDeficiency 24	CTPS1	AR
760	免疫缺陷症 27A 型	ImmunoDeficiency 27A	IFNGR1	AR
761	免疫缺陷症 28 型	ImmunoDeficiency 28	IFNGR2	AR
762	免疫缺陷症 31B 型	ImmunoDeficiency 31B	STAT1	AR
763	免疫缺陷症 35 型	ImmunoDeficiency 35	TYK2	AR
764	免疫缺陷症 40 型	ImmunoDeficiency 40	DOCK2	AR
765	免疫缺陷症 42 型	ImmunoDeficiency 42	RORC	AR
766	免疫缺陷症 47 型	ImmunoDeficiency 47	ATP6AP1	XL
767	免疫缺陷症 48 型	ImmunoDeficiency 48	ZAP70	AR
768	免疫缺陷症 51 型	ImmunoDeficiency 51	IL17RA	AR
769	免疫缺陷症 52 型	ImmunoDeficiency 52	LAT	AR
770	免疫缺陷症 54 型	ImmunoDeficiency 54	MCM4	AR
771	免疫缺陷症 9 型	ImmunoDeficiency 9	ORAI1	AR
772	末端關節彎曲伴本體感覺和觸覺受損	Arthrogryposis, Distal, With Impaired Proprioception and Touch	PIEZO2	AR
773	墨蝶呤還原酶缺乏性多巴反應性張力失調	Dopa-responsive Dystonia due to Sepiapterin Reductase Deficiency	SPR	AR
774	鉬輔因子 C 缺乏症	Molybdenum cofactor Deficiency C	GPHN	AR
775	鉬輔因子缺乏症 A 型	Molybdenum Cofactor Deficiency A	MOCS1	AR
776	鉬因子缺乏性亞硫酸鹽氧化酶缺乏症 B 型	Molybdenum Cofactor Deficiency Complementation Group B	MOCS2	AR
777	奈梅亨破損綜合症	Nijmegen breakage Syndrome,	NBN	AR
778	奈梅亨破損綜合症樣病	Nijmegen Breakage Syndrome-like Disorder	RAD50	AR
779	囊性腦白質病不伴巨腦畸形	Cystic Leukoencephalopathy without Megalencephaly	RNASET2	AR
780	囊性纖維化	Cystic Fibrosis	CFTR	AR
781	腦白質營養不良伴髓鞘發育不良 2 型	Leukodystrophy, hypomyelinating, 2	GJC2	AR
782	腦發育不全-神經病變-魚鱗病-掌跖角化病綜合症	Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	SNAP29	AR
783	腦幹脊髓受累性腦白質病伴乳酸鹽增高症	Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation	DARS2	AR
784	腦幹脊髓髓鞘化降低伴下肢痙攣	Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity	DARS1	AR
785	腦肌酸缺乏綜合症 1 型	Cerebral Creatine Deficiency Syndrome 1	SLC6A8	XL
786	腦積水綜合症 1 型	Hydrolethalus Syndrome 1	HYLS1	AR
787	腦積水綜合症 2 型	Hydrolethalus Syndrome 2	KIF7	AR
788	腦腱黃瘤病	Cerebrotendinous xanthomatosis	CYP27A1	AR
789	腦橋小腦發育不全 10 型	Pontocerebellar hypoplasia Type10	CLP1	AR
790	腦橋小腦發育不全 11 型	Pontocerebellar hypoplasia Type11	TBC1D23	AR
791	腦橋小腦發育不全 1A 型	Pontocerebellar hypoplasia Type1A	VRK1	AR
792	腦橋小腦發育不全 1B 型	Pontocerebellar Hypoplasia Type1B	EXOSC3	AR
793	腦橋小腦發育不全 1C 型	Pontocerebellar Hypoplasia, Type1C	EXOSC8	AR
794	腦橋小腦發育不全 2A 型	Pontocerebellar hypoplasia Type2A	TSEN54	AR
795	腦橋小腦發育不全 2B 型	Pontocerebellar hypoplasia Type2B	TSEN2	AR
796	腦橋小腦發育不全 2D 型	Pontocerebellar Hypoplasia Type2D	SEPSECS	AR
797	腦橋小腦發育不全 2E 型	Pontocerebellar Hypoplasia, Type2E	VPS53	AR
798	腦橋小腦發育不全 6 型	Pontocerebellar hypoplasia Type6	RARS2	AR
799	腦橋小腦發育不全 7 型	Pontocerebellar hypoplasia, Type7	TOE1	AR
800	腦橋小腦發育不全 9 型	Pontocerebellar hypoplasia Type9	AMPD2	AR
801	腦視網膜微血管病伴鈣化囊腫	Cerebroretinal Microangiopathy With Calcifications And Cysts	CTC1	AR
802	腦室擴大伴囊性腎病	Ventriculomegaly With Cystic Kidney Disease	CRB2	AR
803	腦室旁小結異位 2 型	Periventricular Nodular Heterotopia 2	ARFGEF2	AR
804	腦-眼-面-骨胳綜合症 2 型	Cerebrooculofacioskeletal Syndrome 2	ERCC2	AR
805	內臟異位 1 型	Visceral Heterotaxy 1	ZIC3	XL
806	內臟異位 7 型	Visceral Heterotaxy 7	MMP21	AR
807	粘多糖貯積症 7 型	Mucopolysaccharidosis Type VII	GUSB	AR
808	粘多糖貯積症 IIIA 型	Mucopolysaccharidosis Type IIIA	SGSH	AR
809	粘多糖貯積症 IIIB 型	Mucopolysaccharidosis Type IIIB	NAGLU	AR
810	粘多糖貯積症 IIIC 型	Mucopolysaccharidosis TypeIIIC	HGSNAT	AR
811	粘多糖貯積症 IIID 型	Mucopolysaccharidosis TypeIIID	GNS	AR
812	粘多糖貯積症 II 型	Mucopolysaccharidosis II	IDS	XL
813	粘多糖貯積症 IVA 型	Mucopolysaccharidosis TypeIVA	GALNS	AR
814	粘多糖貯積症 IVB 型	Mucopolysaccharidosis TypeIVB	GLB1	AR
815	粘多糖貯積症 VI 型	Mucopolysaccharidosis TypeVI	ARSB	AR
816	粘多糖貯積症 V 型	Mucopolysaccharidosis TypeV	IDUA	AR
817	鳥氨酸氨甲醯轉移酶缺乏症	Ornithine Transcarbamylase Deficiency	OTC	XL
818	尿路-面容異常綜合症 1 型	Urofacial Syndrome 1	HPSE2	AR
819	尿路-面容異常綜合症 2 型	Urofacial Syndrome 2	LRIG2	AR
820	帕金森病 15 型	Parkinson Disease 15	FBXO7	AR
821	帕金森病 19 型	Parkinson Disease 19	DNAJC6	AR
822	佩梅病	Pelizaeus-Merzbacher Disease	PLP1	XL
823	皮膚異色伴中性粒細胞减少症	Poikiloderma with Neutropenia	USB1	AR
824	嘌呤核苷磷酸化酶缺陷	Purine Nucleoside Phosphorylase Deficiency	PNP	AR
825	平視麻痹伴進行性脊柱側凸 1 型	Horizontal gaze palsy with progressive scoliosis 1	ROBO3	AR
826	葡聚糖體肌病 1 型伴或不伴免疫缺陷	Polyglucosan Body Myopathy 1 With Or Without ImmunoDeficiency	RBCK1	AR
827	嵌合的非整倍體綜合症 1 型	Mosaic variegated aneuploidy Syndrome 1	BUB1B	AR
828	强直脊柱性肌營養不良 1 型	Rigid Spine Muscular Dystrophy 1	SELENON	AR
829	青少年 paget 病	Juvenile Paget Disease	TNFRSF11 B	AR
830	青少年型原發性側索硬化	Primary Lateral Sclerosis, Juvenile	ALS2	AR
831	輕度非 BH4 缺乏性高苯丙氨酸血症	Mild non-BH4-deficient Hyperphenylalaninemia	DNAJC12	AR
832	全色盲 2 型	Achromatopsia 2	CNGA3	AR
833	全色盲 3 型	Achromatopsia 3	CNGB3	AR
834	全色盲 4 型	Achromatopsia 4	GNAT2	AR
835	全色盲 7 型	Achromatopsia 7	ATF6	AR
836	全身性透明變性綜合症	Hyaline Fibromatosis Syndrome	ANTXR2	AR
837	全羧化酶合成酶缺乏症	Holocarboxylase Synthetase Deficiency	HLCS	AR
838	溶酶體酸脂肪酶缺乏症	Lysosomal acid lipase Deficiency	LIPA	AR
839	肉碱軟脂醯轉移酶 1 缺乏症	Carnitine Palmitoyltransferase I Deficiency	CPT1A	AR
840	肉碱軟脂醯轉移酶 2 缺乏症	Carnitine Palmitoyltransferase II Deficiency	CPT2	AR
841	肉碱醯基轉移酶缺乏症	Carnitine-Acylcarnitine Translocase Deficiency	SLC25A20	AR
842	乳糜微粒滯留病	Chylomicron Retention Disease	SAR1B	AR
843	軟骨-毛髮發育不全	Cartilage-hair Hypoplasia	RMRP	AR
844	軟骨生成不全 1A 型	Achondrogenesis Type 1A	TRIP11	AR
845	軟骨生成不全 1B 型	Achondrogenesis Type 1B	SLC26A2	AR
846	三功能蛋白缺乏症	Trifunctional Protein Deficiency	HADHA,HADHB	AR
847	三甲基胺尿症	Trimethylaminuria	FMO3	AR
848	身材矮小、視神經萎縮和 Pelger-Huet 異常	Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	NBAS	AR
849	身材矮小、指甲發育不良、面容異常和少毛症	Short Stature, Onycho Dysplasia, Facial Dysmorphism, And Hypotrichosis	POC1A	AR
850	神經發育性疾病伴進行性小頭畸形、痙攣和腦異常	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies	PLAA	AR
851	神經發育性疾病伴小頭畸形、肌張力减退和腦異常	Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies	PRUNE1	AR
852	神經發育異常、痙攣性四肢癱瘓和腦異常伴或不伴癲癇發作	Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures	WDR45B	AR
853	神經發育障礙伴或不伴張力减退、癲癇發作和小腦萎縮	Neurodevelopmental Disorder with or without Hypotonia, Seizures, and Cerebellar Atrophy	PIGG	AR
854	神經發育障礙伴小頭畸形、癲癇發作和腦皮質萎縮	Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy	VARS1	AR
855	神經退行性病變伴腦鐵離子沉積症 1 型	Neurodegeneration with Brain Iron Accumulation 1	PANK2	AR
856	神經退行性病變伴腦鐵離子沉積症 2B 型	Neurodegeneration with Brain Iron Accumulation 2B	PLA2G6	AR
857	神經退行性病變伴腦鐵離子沉積症 4 型	Neurodegeneration with Brain Iron Accumulation 4 (Mitochondrial Membrane Protein-Associated Neurodegeneration)	C19orf12	AR
858	神經元蠟樣脂褐質沉積症 1 型	Neuronal Ceroid-Lipofuscinoses 1	PPT1	AR
859	神經元蠟樣脂褐質沉積症 2 型	Neuronal Ceroid-Lipofuscinoses 2	TPP1	AR
860	神經元蠟樣脂褐質沉積症 3 型	Neuronal Ceroid-Lipofuscinoses 3	CLN3	AR
861	神經元蠟樣脂褐質沉積症 4A 型	Neuronal Ceroid-Lipofuscinoses 4A	CLN6	AR
862	神經元蠟樣脂褐質沉積症 5 型	Neuronal Ceroid-Lipofuscinoses 5	CLN5	AR
863	神經元蠟樣脂褐質沉積症 6 型	Neuronal Ceroid-Lipofuscinoses 6	CLN6	AR
864	神經元蠟樣脂褐質沉積症 7 型	Neuronal Ceroid-Lipofuscinoses 7	MFSD8	AR
865	神經元蠟樣脂質褐素沉積病 10 型	Neuronal Ceroid-Lipofuscinoses 10	CTSD	AR
866	神經元蠟樣脂質褐素沉積病 8 型	Neuronal Ceroid Lipofuscinosis 8	CLN8	AR
867	腎病型胱氨酸症	Nephropathic Cystinosis	CTNS	AR
868	腎病綜合症 11 型	Nephrotic Syndrome Type11	NUP107	AR
869	腎病綜合症 12 型	Nephrotic Syndrome Type12	NUP93	AR
870	腎病綜合症 14 型	Nephrotic Syndrome Type14	SGPL1	AR
871	腎病綜合症 1 型	Nephrotic Syndrome, Type1	NPHS1	AR
872	腎病綜合症 2 型	Nephrotic Syndrome Type2	NPHS2	AR
873	腎病綜合症 3 型	Nephrotic Syndrome Type3	PLCE1	AR
874	腎病綜合症 7 型	Nephrotic Syndrome Type7	DGKE	AR
875	腎病綜合症 9 型	Nephrotic Syndrome Type9	COQ8B	AR
876	腎單位腎癆 11 型	Nephronophthisis 11	TMEM67	AR
877	腎單位腎癆 16 型	Nephronophthisis 16	ANKS6	AR
878	腎單位腎癆 19 型	Nephronophthisis 19	DCDC2	AR
879	腎單位腎癆 20 型	Nephronophthisis 20	MAPKBP1	AR
880	腎單位腎癆 2 型	Nephronophthisis 2	INVS	AR
881	腎單位腎癆 3 型	Nephronophthisis 3	NPHP3	AR
882	腎單位腎癆樣腎病 1 型	Nephronophthisis-Like Nephropathy 1	XPNPEP3	AR
883	腎-肝-胰腺發育不良 2 型	Renal-Hepatic-Pancreatic Dysplasia 2	NEK8	AR
884	腎小管發育不全	Renal Tubular Dysgenesis	ACE,AGT, REN	AR
885	腎性尿崩症 2 型	Diabetes insipidus, Nephrogenic, 2	AQP2	AR
886	腎源性低鎂血症 5 型	Hypomagnesemia 5, Renal, with Ocular Involvement	CLDN19	AR
887	生物素-硫胺素反應性基底節病/硫胺素代謝功能障礙綜合症 2 型	Thiamine Metabolism Dysfunction Syndrome 2 (biotin- or thiamine-responsive encephalopathy Type 2)	SLC19A3	AR
888	生物素酶缺乏症	Biotinidase Deficiency	BTD	AR
889	生長遲緩-智力發育受損-張力减退和肝病	Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy	IARS1	AR
890	生長遲滯、發育遲緩、粗糙面容及早亡	Growth Retardation, Developmental Delay, Facial Dysmorphism	FTO	AR
891	視隔發育不良	Septooptic Dysplasia	HESX1	AR
892	視神經萎縮 10 型	Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures	RTN4IP1	AR
893	視網膜大動脉瘤伴瓣膜上肺動脉狹窄	Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	IGFBP7	AR
894	視網膜色素變性 14 型	Retinitis Pigmentosa 14	TULP1	AR
895	視網膜色素變性 59 型	Retinitis Pigmentosa 59	DHDDS	AR
896	視網膜色素變性 77 型	Retinitis Pigmentosa 77	REEP6	AR
897	視網膜色素變性伴或不伴骨胳異常	Retinitis Pigmentosa with or without Skeletal Anomalies	CWC27	AR
898	視網膜營養不良伴或不伴黃斑葡萄腫	Retinal Dystrophy with Macular Staphyloma	CFAP410	AR
899	視錐-視杆營養不良	Cone-rod Dystrophy	AIPL1	AR
900	視錐-視杆營養不良 10 型	Cone-Rod Dystrophy 10	SEMA4A	AR
901	視錐-視杆營養不良 16 型	Cone-Rod Dystrophy 16	C8orf37	AR
902	視錐-視杆營養不良 3 型	Cone-Rod Dystrophy 3	ABCA4	AR
903	手脚短小型脊柱骨骺發育不良	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	DDR2	AR
904	雙側額頂骨多小腦回畸形	Bilateral Frontoparietal Polymicrogyria	ADGRG1	AR
905	四氫生物蝶呤缺乏症 A 型	Hyperphenylalaninemia, BH4-deficient, A	PTS	AR
906	四肢骨盆發育不全綜合症	Limb Pelvis Hypoplasia Aplasia Syndrome	WNT7A	AR
907	四肢癱瘓、胼胝體變薄及進行性小頭畸形	Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	SLC1A4	AR
908	髓鞘减少型腦白質營養不良 9 型	Leukodystrophy, Hypomyelinating, 9	RARS1	AR
909	胎兒運動不能畸形序列症 2 型	Fetal Akinesia Deformation Sequence 2	RAPSN	AR
910	胎糞性腸梗阻	Meconium Ileus	GUCY2C	AR
911	糖基磷脂醯肌醇合成缺陷 15 型	Glycosylphosphatidylinositol Biosynthesis Defect 15	GPAA1	AR
12	糖皮質激素缺乏症 1 型	Glucocorticoid Deficiency 1	MC2R	AR
913	糖皮質激素缺乏症 2 型	Glucocorticoid Deficiency 2	MRAP	AR
914	糖皮質激素缺乏症 4 型	Glucocorticoid Deficiency 4	NNT	AR
915	糖原累積病 Ia 型	Glycogen Storage Disease TypeIa	G6PC	AR
916	糖原累積病 Ib 型	Glycogen Storage Disease TypeIb	SLC37A4	AR
917	糖原累積病 Ic 型	Glycogen Storage Disease TypeIc	SLC37A4	AR
918	糖原累積病 II 型	Glycogen Storage Disease TypeII	GAA	AR
919	糖原累積病 IV 型	Glycogen Storage Disease TypeIV	GBE1	AR
920	糖原累積症 III 型	Glycogen Storage Disease TypeIII	AGL	AR
921	糖原累積症 IXa 型	Glycogen storage Disease TypeIXa1/IXa2	PHKA2	XL
922	糖原累積症 IXb 型	Glycogen storage Disease TypeIXb	PHKB	AR
923	糖原累積症 IXc 型	Glycogen storage Disease TypeIXc	PHKG2	AR
924	糖原累積症 IXd 型	Glycogen storage Disease TypeIXd	PHKA1	XL
925	糖原累積症 VII 型	Glycogen Storage Disease TypeVII	PFKM	AR
926	糖原累積症 VI 型	Glycogen Storage Disease TypeVI	PYGL	AR
927	糖原累積症 V 型	Glycogen Storage Disease TypeV	PYGM	AR
928	糖原累積症 XIV 型	Glycogen Storage Disease TypeXIV	PGM1	AR
929	特發性生長激素缺乏症 3 型	Isolated growth hormone Deficiency TypeIII	BTK	XL
930	特納型 X 連鎖綜合症智力發育障礙	Intellectual Developmental Disorder, X-linked, Turner Type	HUWE1	XL
931	天冬氨醯葡糖胺尿症	Aspartylglucosaminuria	AGA	AR
932	天冬醯胺合成酶缺乏症	Asparagine Synthetase Deficiency	ASNS	AR
933	鐵粒幼細胞性貧血、B 細胞免疫缺陷、周期性發熱、發育延遲綜合症	Sideroblastic Anemia With B-Cell ImmunoDeficiency, Periodic Fevers, And Developmental Delay	TRNT1	AR
934	同型半胱氨酸尿症伴巨幼細胞貧血cblE 型	Homocystinuria-megaloblastic anemia cblE type	MTRR	AR
935	透明脊椎異骨症	Diaphanospondylodysostosis	BMPER	AR
936	透析腦病綜合症（伴脂肪代謝障礙）	Encephalopathy, Progressive, With Or Without Lipodystrophy	BSCL2	AR
937	唾液酸沉積症	Sialidosis	NEU1	AR
938	外胚層發育不良、先天性指缺陷及黃斑營養不良綜合症	Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome	CDH3	AR
939	外胚層發育不良 10b（少汗、毛髮、牙齒型）	Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type	EDAR	AR
940	外胚層發育不良和免疫缺陷 1 型	Ectodermal Dysplasia and ImmunoDeficiency 1	IKBKG	XL
941	烷醇症	Lathosterolosis	SC5D	AR
942	網狀細胞發育不全	Reticular Dysgenesis	AK2	AR
943	維生素 B6 依賴型早發性癲癇	Epilepsy, early-onset, vitamin B6-dependent	PLPBP	AR
944	維生素 D 依賴性佝僂病 IA 型	Vitamin D-dependent rickets TypeIA	CYP27B1	AR
945	維生素K 依賴性凝血因子聯合缺乏 2 型	Vitamin K-dependent clotting factors, combined Deficiency of, 2	VKORC1	AR
946	胃腸道缺陷和免疫缺陷綜合症 1 型	Gastrointestinal defects and Immuno Deficiency Syndrome	TTC7A	AR
947	無β脂蛋白血症	Abetalipoproteinemia	MTTP	AR
948	無泪、失弛緩和智力障礙綜合症	Alacrima, Achalasia, And Mental Retardation Syndrome	GMPPA	AR
949	無腦回畸形 4 型	Lissencephaly 4	NDE1	AR
950	無腦回畸形 5 型	Lissencephaly 5	LAMB1	AR
951	無腦回畸形 6 型	Lissencephaly 6	KATNB1	AR
952	無腦回畸形 8 型	Lissencephaly 8	TMTC3	AR
953	無手足畸形	Acheiropody	LMBR1	AR
954	無轉鐵蛋白血症	Atransferrinemia	TF	AR
955	舞蹈病-棘紅細胞增多症	Chorea-Acanthocytosis	VPS13A	AR
956	戊二酸血症 IIA 型	Glutaric acidemia IIA	ETFA	AR
957	戊二酸血症 IIB 型	Glutaric acidemia IIB	ETFB	AR
958	戊二酸血症 IIC 型	Glutaric acidemia IIC	ETFDH	AR
959	戊二酸血症 I 型	Glutaric Acidemia I	GCDH	AR
960	細胞色素 c 氧化酶缺乏性致死性嬰兒心腦肌病 1 型	Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency 1	SCO2	AR
961	細胞色素 c 氧化酶缺乏性致死性嬰兒心腦肌病 2 型	Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency 2	COX15	AR
962	先天泌鈉型腹瀉 8 型	Congenital Diarrhea 8, Secretory Sodium	SLC9A3	AR
963	先天性白內障、聽力損失和神經退行性變	Congenital Cataracts, Hearing Loss, And Neurodegeneration	SLC33A1	AR
964	先天性膽汁酸合成障礙 1 型	Congenital Bile Acid Synthesis Defect 1	HSD3B7	AR
965	先天性膽汁酸合成障礙 2 型	Congenital Bile Acid Synthesis Defect 2	AKR1D1	AR
966	先天性膽汁酸合成障礙 3 型	Congenital Bile Acid Synthesis Defect 3	CYP7B1	AR
967	先天性短腸綜合症（CLMP 基因相關）	Congenital Short Bowel Syndrome(CLMP)	CLMP	AR
968	先天性多發畸形-張力减退-癲癇發作綜合症 2 型	Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2	PIGA	XL
969	先天性多關節攣縮 1 型伴髓鞘缺陷	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	LGI4	AR
970	先天性非甲狀腺腫性甲狀腺功能减退症 1 型	Hypothyroidism Congenital Nongoitrous 1	TSHR	AR
971	先天性非甲狀腺腫性甲狀腺功能减退症 4 型	Hypothyroidism Congenital Nongoitrous 4	TSHB	AR
972	先天性紅細胞生成障礙性貧血 2 型	Congenital Dyserythropoietic Anemia TypeII	SEC23B	AR
973	先天性肌無力綜合症 10 型	Congenital Myasthenic Syndrome 10	DOK7	AR
974	先天性肌無力綜合症 13 型	Congenital Myasthenic Syndrome 13	DPAGT1	AR
975	先天性肌無力綜合症 14 型	Congenital Myasthenic Syndrome 14	ALG2	AR
976	先天性肌無力綜合症 20 型	Congenital Myasthenic Syndrome 20	SLC5A7	AR
977	先天性肌無力綜合症 3B 型	Congenital Myasthenic Syndrome 3B, fast-channel	CHRND	AR
978	先天性肌無力綜合症 4A 型	Congenital Myasthenic Syndrome 4A, Slow-channel	CHRNE	AR
979	先天性肌無力綜合症 5 型	Congenital Myasthenic Syndrome 5	COLQ	AR
980	先天性肌無力綜合症 6 型	Congenital Myasthenic Syndrome 6	CHAT	AR
981	先天性肌無力綜合症 9 型	Congenital Myasthenic Syndrome 9	MUSK	AR
982	先天性肌營養不良伴白內障和智力障礙	Muscular dystrophy, congenital, with cataracts and intellectual disability	INPP5K	AR
983	先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A10 型	Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 10	RXYLT1	AR
984	先天性肌營養不良-抗肌萎縮相關糖蛋	Congenital Muscular	B3GALNT2	AR
985	白病伴腦眼異常 A11 型	Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 11		AR
986	先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A12 型	Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 12	POMK	AR
987	先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A1 型	Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA1	POMT1	AR
988	先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A2 型	Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 2	POMT2	AR
989	先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A3 型	Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 3	POMGNT1	AR
990	先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A4 型	Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 4	FKTN	AR
991	先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A5 型	Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 5	FKRP	AR
992	先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A6 型	Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 6	LARGE1	AR
993	先天性肌營養不良-抗肌萎縮相關糖蛋白病伴腦眼異常 A8 型	Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies TypeA 8	POMGNT2	AR
994	先天性靜止性夜盲症 1A 型	Congenital Stationary Night Blindness, Type1A	NYX	XL
995	先天性靜止性夜盲症 1E 型	Congenital Stationary Night Blindness, Type1E	GPR179	AR
996	先天性靜止性夜盲症 2B 型	Congenital Stationary Night Blindness, Type2B	CABP4	AR
997	先天性鈉腹瀉	Congenital Sodium Diarrhea	SPINT2	AR
998	先天性腦積水 1 型	Congenital Hydrocephalus 1	CCDC88C	AR
999	先天性腦積水 2 型伴或不伴腦或眼異常	Congenital Hydrocephalus 2 with or Without Brain or Eye Anomalies	MPDZ	AR
1000	先天性凝血酶原缺乏症	Congenital Prothrombin Deficiency	F2	AR
1001	先天性全身性脂肪營養不良 4 型	Lipodystrophy, congenital generalized, Type4	CAVIN1	AR
1002	先天性腎上腺功能减退伴性別反轉	Adrenal Insufficiency, Congenital, with 46XY Sex Reversal, Partial or Complete	CYP11A1	AR
1003	先天性糖基化病 1a 型	Congenital Disorders of Glycosylation Ia	PMM2	AR
1004	先天性糖基化病 1b 型	Congenital Disorders of Glycosylation Ib	MPI	AR
1005	先天性糖基化病 1c 型	Congenital Disorders of Glycosylation Ic	ALG6	AR
1006	先天性糖基化病 1d 型	Congenital Disorders of Glycosylation Id	ALG3	AR
1007	先天性糖基化病 1g 型	Congenital Disorders of Glycosylation Ig	ALG12	AR
1008	先天性糖基化病 1h 型	Congenital Disorders of Glycosylation Ih	ALG8	AR
1009	先天性糖基化病 1k 型	Congenital Disorders of Glycosylation Ik	ALG1	AR
1010	先天性糖基化病 1l 型	Congenital Disorders of Glycosylation Il	ALG9	AR
1011	先天性糖基化病 1m 型	Congenital Disorders of Glycosylation Im	DOLK	AR
1012	先天性糖基化病 1n 型	Congenital Disorders of Glycosylation In	RFT1	AR
1013	先天性糖基化病 1p 型	Congenital Disorders of Glycosylation Ip	ALG11	AR
1014	先天性糖基化病 1q 型	Congenital Disorders of Glycosylation Iq	SRD5A3	AR
1015	先天性糖基化病 1v 型	Congenital Disorders of Glycosylation Iv	NGLY1	AR
1016	先天性糖基化病 1Y 型	Congenital Disorders of Glycosylation Iy	SSR4	XL
1017	先天性糖基化病 2a 型	Congenital Disorders of Glycosylation IIa	MGAT2	AR
1018	先天性糖基化病 2e 型	Congenital Disorders of Glycosylation IIe	COG7	AR
1019	先天性糖基化病 2k 型	Congenital Disorders of Glycosylation IIk	TMEM165	AR
1020	先天性糖基化病 2l 型	Congenital Disorders of Glycosylation IIl	COG6	AR
1021	先天性糖基化病 2n 型	Congenital Disorders of Glycosylation Iin	SLC39A8	AR
1022	先天性糖基化病 2o 型	Congenital Disorders of Glycosylation Iio	CCDC115	AR
1023	先天性痛覺不敏感	Congenital Insensitivity to Pain	SCN9A	AR
1024	先天性脫髮伴 T 細胞免疫缺陷和甲營養不良	Congenital Alopecia and T-Cell ImmunoDeficiency and Nail Dystrophy	FOXN1	AR
1025	先天性無巨核細胞血小板减少	Congenital Amegakaryocytic Thrombocytopenia	MPL	AR
1026	先天性無痛無汗症	Insensitivity to pain, congenital, with anhidrosis	NTRK1	AR
1027	先天性纖維蛋白原缺乏血症	Congenital Afibrinogenemia	FGA,FGB,F GG	AR
1028	先天性血栓性血小板减少性紫癜	Congenital Thrombotic thrombocytopenic purpura	ADAMTS13	AR
1029	先天性指屈曲、關節病、髖內翻及心包炎綜合症	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	PRG4	AR
1030	纖維軟骨增生 1 型	Fibrochondrogenesis 1	COL11A1	AR
1031	纖維軟骨增生 2 型	Fibrochondrogenesis 2	COL11A2	AR
1032	綫粒體 DNA 缺失綜合症 11 型	Mitochondrial DNA depletion Syndrome 11	MGME1	AR
1033	綫粒體 DNA 缺失綜合症 13 型	Mitochondrial DNA depletion Syndrome 13	FBXL4	AR
1034	綫粒體 DNA 缺失綜合症 1 型	Mitochondrial DNA depletion Syndrome 1	TYMP	AR
1035	綫粒體 DNA 缺失綜合症 2 型	Mitochondrial DNA depletion Syndrome 2	TK2	AR
1036	綫粒體 DNA 缺失綜合症 3 型	Mitochondrial DNA depletion Syndrome 3	DGUOK	AR
1037	綫粒體 DNA 缺失綜合症 4A 型	Mitochondrial DNA depletion Syndrome 4A	POLG	AR
1038	綫粒體 DNA 缺失綜合症 5 型	Mitochondrial DNA depletion Syndrome 5	SUCLA2	AR
1039	綫粒體 DNA 缺失綜合症 6 型	Mitochondrial DNA depletion Syndrome 6	MPV17	AR
1040	綫粒體 DNA 缺失綜合症 7 型	Mitochondrial DNA depletion Syndrome 7	TWNK	AR
1041	綫粒體 DNA 缺失綜合症 8A 型/8B 型	Mitochondrial DNA depletion Syndrome 8A/8B	RRM2B	AR
1042	綫粒體 DNA 缺失綜合症 9 型	Mitochondrial DNA depletion Syndrome 9	SUCLG1	AR
1043	綫粒體短鏈烯醯 CoA 水合酶 1 缺乏症	Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency	ECHS1	AR
1044	綫粒體複合體 I 缺乏症，核型 1	Mitochondrial Complex I Deficiency, Nuclear Type 1	NDUFS4	AR
1045	綫粒體複合體 I 缺乏症，核型 10	Mitochondrial Complex I Deficiency, Nuclear Type 10	NDUFAF2	AR
1046	綫粒體複合體 I 缺乏症，核型 12	Mitochondrial Complex I Deficiency, Nuclear Type 12	NDUFA1	XL
1047	綫粒體複合體 I 缺乏症，核型 14	Mitochondrial Complex I Deficiency, Nuclear Type 14	NDUFA11	AR
1048	綫粒體複合體 I 缺乏症，核型 16	Mitochondrial Complex I Deficiency, Nuclear Type 16	NDUFAF5	AR
1049	綫粒體複合體 I 缺乏症，核型 17	Mitochondrial Complex I Deficiency, Nuclear Type 17	NDUFAF6	AR
1050	綫粒體複合體 I 缺乏症，核型 19	Mitochondrial Complex I Deficiency, Nuclear Type 19	FOXRED1	AR
1051	綫粒體複合體 I 缺乏症，核型 2	Mitochondrial Complex I Deficiency, Nuclear Type 2	NDUFS8	AR
1052	綫粒體複合體 I 缺乏症，核型 21	Mitochondrial Complex I Deficiency, Nuclear Type 21	NUBPL	AR
1053	綫粒體複合體 I 缺乏症，核型 22	Mitochondrial Complex I Deficiency, Nuclear Type 22	NDUFA10	AR
1054	綫粒體複合體 I 缺乏症，核型 3	Mitochondrial Complex I Deficiency, Nuclear Type 3	NDUFS7	AR
1055	綫粒體複合體 I 缺乏症，核型 4	Mitochondrial Complex I Deficiency, Nuclear Type 4	NDUFV1	AR
1056	綫粒體複合體 I 缺乏症，核型 5	Mitochondrial Complex I Deficiency, Nuclear Type 5	NDUFS1	AR
1057	綫粒體複合體 I 缺乏症，核型 6	Mitochondrial Complex I Deficiency, Nuclear Type 6	NDUFS2	AR
1058	綫粒體複合體 I 缺乏症，核型 7	Mitochondrial Complex I Deficiency, Nuclear Type 7	NDUFV2	AR
1059	綫粒體複合體 I 缺乏症，核型 9	Mitochondrial Complex I Deficiency, Nuclear Type 9	NDUFS6	AR
1060	綫粒體複合體 I 缺乏症，核型 20	Mitochondrial Complex I Deficiency, Nuclear Type 20	ACAD9	AR
1061	綫粒體複合體 II 缺乏症，核型 2	Mitochondrial Complex II Deficiency, Nuclear Type 2	SDHAF1	AR
1062	綫粒體複合體 III 缺乏症，核型 2	Mitochondrial Complex III Deficiency Nuclear Type 2	TTC19	AR
1063	綫粒體複合體 III 缺乏症，核型 4	Mitochondrial Complex III Deficiency Nuclear Type 4	UQCRQ	AR
1064	綫粒體複合體 III 缺乏症，核型 5	Mitochondrial Complex III Deficiency Nuclear Type 5	UQCRC2	AR
1065	綫粒體複合體 III 缺乏症，核型 8	Mitochondrial Complex III Deficiency Nuclear Type 8	LYRM7	AR
1066	綫粒體複合體 IV 缺乏症，核型 1	Mitochondrial Complex IV Deficiency, Nuclear Type 1	SURF1	AR
1067	綫粒體複合體 IV 缺乏症，核型 3	Mitochondrial Complex IV Deficiency, Nuclear Type 3	COX10	AR
1068	綫粒體複合體 IV 缺乏症，核型 11	Mitochondrial Complex IV Deficiency, Nuclear Type 11	COX20	AR
1069	綫粒體複合體 IV 缺乏症，核型 12	Mitochondrial Complex IV Deficiency, Nuclear Type 12	PET100	AR
1070	綫粒體複合體 IV 缺乏症，核型 17	Mitochondrial Complex IV Deficiency, Nuclear Type 17	COA8	AR
1071	綫粒體複合體 V（ATP 合酶）缺乏症，核型 2	Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type2	TMEM70	AR
1072	綫粒體神經發育性疾病伴運動異常和乳酸酸中毒（伴或不伴癲癇）	Mitochondrial Neurodevelopmental Disorder with Abnormal Movements and Lactic Acidosis with or without Seizures	WARS2	AR
1073	腺苷琥珀酸酶缺乏症	Adenylosuccinase Deficiency	ADSL	AR
1074	腺苷脫氨酶缺乏症	Adenosine Deaminase Deficiency	ADA	AR
1075	小兒暫時性肝功能衰竭綜合症	Infantile Transient Liver Failure	TRMU	AR
1076	小腦-面-牙綜合症	Cerebellofaciodental Syndrome	BRF1	AR
1077	小腦性共濟失調-智力障礙-平衡失調綜合症 1 型	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1	VLDLR	AR
1078	小腦性共濟失調-智力障礙-平衡失調綜合症 2 型	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2	WDR81	AR
1079	小腦性共濟失調-智力障礙-平衡失調綜合症 4 型	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4	ATP8A2	AR
1080	小頭骨發育不良先天性侏儒 1 型	Microcephalic Osteodysplastic Primordial Dwarfism, TypeI	RNU4ATAC	AR
1081	小頭骨發育不良先天性侏儒 2 型	Microcephalic Osteodysplastic Primordial Dwarfism, Type II	PCNT	AR
1082	小頭畸形、矮小和肢體異常	Microcephaly, Short Stature, And Limb Abnormalities	DONSON	AR
1083	小頭畸形、癲癇、痙攣發作及腦鈣化	Microcephaly, Seizures, Spasticity, And Brain Calcifications	PCDH12	AR
1084	小頭畸形、癲癇和糖尿病綜合症	Microcephaly, Epilepsy, and Diabetes Syndrome	IER3IP1	AR
1085	小頭畸形、短肢及葡萄糖代謝障礙 1 型	Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	TRMT10A	AR
1086	小頭畸形-癲癇-發育遲緩症	Microcephaly, Seizures, and Developmental Delay	PNKP	AR
1087	小頭畸形-毛細血管畸形綜合症	Microcephaly-Capillary Malformation Syndrome	STAMBP	AR
1088	小眼畸形伴眼缺損 3 型	Microphthalmia with Coloboma 3	VSX2	AR
1089	鋅缺乏型腸病性肢端皮炎	Acrodermatitis Enteropathica, Zinc-Deficiency Type	SLC39A4	AR
1090	新生兒 Bartter 綜合症 4A 型伴感音性耳聾	Neonatal Bartter Syndrome Type 4A with Sensorineural Deafness	BSND	AR
1091	新生兒瓜氨酸血症 2 型	Citrullinemia, TypeII, Neonatal-Onset	SLC25A13	AR
1092	新生兒糖尿病伴先天性甲狀腺功能减退	Neonatal Diabetes Mellitus with Congenital Hypothyroidism	GLIS3	AR
1093	新生兒嚴重型甲狀旁腺功能亢進	Neonatal Severe Hyperparathyroidism	CASR	AR
1094	新生兒致死型頑固多發性癲癇發作綜合症	Lethal Neonatal Rigidity and Multifocal Seizure Syndrome	BRAT1	AR
1095	血色病 2A 型	Hemochromatosis, Type 2A	HJV	AR
1096	血小板異常伴嗜酸性粒細胞增多症及免疫介導的炎性反應	Platelet Abnormalities with Eosinophilia and Immune-mediated Inflammatory Disease	ARPC1B	AR
1097	亞甲基四氫葉酸還原酶缺乏性高胱氨酸尿症	Homocystinuria due to MTHFR Deficiency	MTHFR	AR
1098	烟霧病 6 型伴或不伴食管失馳症	Moyamoya Disease 6 with or without Achalasia	GUCY1A1	AR
1099	延胡索酸酶缺乏症	Fumarase Deficiency	FH	AR
1100	嚴重先天性中性白細胞减少症 3 型	Severe Congenital Neutropenia, Autosomal Recessive,3	HAX1	AR
1101	嚴重先天性中性白細胞减少症 4 型	Severe Congenital Neutropenia, Autosomal Recessive,4	G6PC3	AR
1102	嚴重先天性中性白細胞减少症 5 型	Severe Congenital Neutropenia, Autosomal Recessive, 5	VPS45	AR
1103	嚴重先天性中性白細胞减少症 6 型	Severe Congenital Neutropenia, Autosomal Recessive, 6	JAGN1	AR
1104	岩藻糖苷貯積病	Fucosidosis	FUCA1	AR
1105	炎性腸病 28 型	Inflammatory Bowel Disease 28	IL10RA	AR
1106	眼皮膚白化病 1 型	Oculocutaneous Albinism Type1	TYR	AR
1107	眼皮膚白化病 2 型	Oculocutaneous Albinism Type2	OCA2	AR
1108	眼皮膚白化病 3 型	Oculocutaneous Albinism Type3	TYRP1	AR
1109	眼皮膚白化病 4 型	Oculocutaneous Albinism Type4	SLC45A2	AR
1110	眼皮膚白化病 6 型	Oculocutaneous Albinism Type6	SLC24A5	AR
1111	眼皮膚白化病 7 型	Oculocutaneous Albinism Type7	C10orf11	AR
1112	眼前節發育障礙 2 型	Anterior Segement Dysgenesis 2	FOXE3	AR
1113	眼前節發育障礙 7 型	Anterior Segement Dysgenesis 7	PXDN	AR
1114	眼缺損、先心病、魚鱗病樣皮膚病、智力障礙及耳異常綜合症	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome	PIGL	AR
1115	羊水過多伴巨腦和症狀性癲癇	Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	STRADA	AR
1116	胰島素樣生長因子 I 抵抗	Insulin-Like Growth Factor I, Resistance to	IGF1R	AR
1117	遺傳性感覺和自主神經病 2B 型	Hereditary Sensory and Autonomic Neuropathy TypeIIB	RETREG1	AR
1118	遺傳性感覺和自主神經病 2 型	Hereditary Sensory and Autonomic Neuropathy TypeII	WNK1	AR
1119	遺傳性感覺和自主神經病 5 型	Hereditary Sensory and Autonomic Neuropathy TypeV	NGF	AR
1120	遺傳性感覺和自主神經病 8 型	Hereditary Sensory and Autonomic Neuropathy TypeVIII	PRDM12	AR
1121	遺傳性感覺和自主神經病變 3 型	Hereditary Sensory and Autonomic Neuropathy Type III	ELP1	AR
1122	遺傳性果糖不耐受症	Hereditary Fructose Intolerance	ALDOB	AR
1123	遺傳性驚跳症 3 型	Hereditary Hyperekplexia 3	SLC6A5	AR
1124	遺傳性驚跳症 4 型	Hereditary 4	ATAD1	AR
1125	遺傳性血色病 2B 型	Hemochromatosis Type2B	HAMP	AR
1126	遺傳性葉酸吸收不良	Hereditary Folate Malabsorption	SLC46A1	AR
1127	遺傳性運動感覺神經病 6B 型	Hereditary Motor And Sensory Neuropathy type VIB	SLC25A46	AR
1128	遺傳性運動感覺性神經病伴胼胝體發育不全	Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum	SLC12A6	AR
1129	乙基丙二酸腦病	Ethylmalonic Encephalopathy	ETHE1	AR
1130	乙型血友病	Hemophilia B	F9	XL
1131	異丁醯輔酶 A 脫氫酶缺乏症	Isobutyryl-CoA dehydrogenase Deficiency	ACAD8	AR
1132	異染性腦白質營養不良	Metachromatic Leukodystrophy due to Arylsulfatase A	ARSA	AR
1133	異戊酸血症	Isovaleric Acidemia	IVD	AR
1134	嬰兒肝衰竭綜合症 1 型	Infantile liver failure Syndrome 1	LARS1	AR
1135	嬰兒紋狀體黑質變性	Striatonigral Degeneration, Infantile	NUP62	AR
1136	嬰兒型低磷酸酯酶症	Hypophosphatasia, infantile	ALPL	AR
1137	嬰兒型泛發性動脉鈣化 2 型	Generalized Arterial Calcification of Infancy 2	ABCC6	AR
1138	嬰兒型肌張力低下伴精神運動發育退化和特殊面容 1 型	Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	NALCN	AR
1139	嬰兒型肌張力低下伴精神運動發育退化和特殊面容 2 型	Hypotonia Infantile, With Psychomotor Retardation And Characteristic facies 2	UNC80	AR
1140	嬰兒型肌張力低下伴精神運動發育退化和特殊面容 3 型	Hypotonia, Infantile, With Psychomotor Retardation And Characteristic facies 3	TBCK	AR
1141	嬰兒型帕金森樣張力失調	Infantile Parkinsonism-Dystonia	SLC6A3	AR
1142	嬰兒型突發性心力衰竭	Infantile Sudden Cardiac Failure	PPA2	AR
1143	嬰兒型唾液游離酸貯積症	Free sialic acid storage Disease, infantile form	SLC17A5	AR
1144	嬰兒型小腦-視網膜退化症	Infantile Cerebellar-Retinal Degeneration	ACO2	AR
1145	右心房異構	Right Atrial Isomerism	GDF1	AR
1146	原發性常染色體隱性遺傳小頭畸形 10 型	Primary Autosomal Recessive Microcephaly 10	ZNF335	AR
1147	原發性常染色體隱性遺傳小頭畸形 15 型	Primary Autosomal Recessive Microcephaly 15	MFSD2A	AR
1148	原發性常染色體隱性遺傳小頭畸形 17 型	Primary Autosomal Recessive Microcephaly 17	CIT	AR
1149	原發性常染色體隱性遺傳小頭畸形 1 型	Primary Autosomal Recessive Microcephaly 1	MCPH1	AR
1150	原發性常染色體隱性遺傳小頭畸形 20 型	Primary Autosomal Recessive Microcephaly 20	KIF14	AR
1151	原發性常染色體隱性遺傳小頭畸形 2 型伴或不伴皮質畸形	Primary Autosomal Recessive Microcephaly 2, With Or Without Corticalmalformations	WDR62	AR
1152	原發性常染色體隱性遺傳小頭畸形 3 型	Primary Autosomal Recessive Microcephaly 3	CDK5RAP2	AR
1153	原發性常染色體隱性遺傳小頭畸形 4 型	Primary Autosomal Recessive Microcephaly 4	KNL1	AR
1154	原發性常染色體隱性遺傳小頭畸形 5 型	Primary Autosomal Recessive Microcephaly 5	ASPM	AR
1155	原發性常染色體隱性遺傳小頭畸形 6 型	Primary Autosomal Recessive Microcephaly 6	CENPJ	AR
1156	原發性常染色體隱性遺傳小頭畸形 7 型	Primary Autosomal Recessive Microcephaly 7	STIL	AR
1157	原發性輔酶 Q10 缺乏症 1 型	Primary Coenzyme Q10 Deficiency 1	COQ2	AR
1158	原發性輔酶 Q10 缺乏症 4 型	Primary Coenzyme Q10 Deficiency 4	COQ8A	AR
1159	原發性輔酶 Q10 缺乏症 6 型	Primary Coenzyme Q10 Deficiency 6	COQ6	AR
1160	原發性輔酶 Q10 缺乏症 7 型	Primary Coenzyme Q10 Deficiency 7	COQ4	AR
1161	原發性高草酸尿症 1 型	Primary Hyperoxaluria TypeI	AGXT	AR
1162	原發性開角型青光眼 3A 型	Primary Open Angle Glaucoma 3A	CYP1B1	AR
1163	原發性肉碱缺乏症	Primary Carnitine Deficiency	SLC22A5	AR
1164	遠端關節攣縮 5D 型	Distal Arthrogryposis Type 5D	ECEL1	AR
1165	遠端腎小管性酸中毒伴溶血性貧血	Distal Renal Tubular Acidosis with Hemolytic Anemia	SLC4A1	AR
1166	早髮型肌病、無反射、呼吸窘迫及吞咽困難	Early-Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia	MEGF10	AR
1167	早髮型進行性腦病	Encephalopathy, Progressive, Early-onset, with Brain Atrophy and Thin Corpus Callosum	TBCD	AR
1168	早發性肥胖伴腎上腺功能不全和紅發	Obesity, Early-onset, with Adrenal Insufficiency and Red Hair	POMC	AR
1169	早發幼兒癲癇性腦病 16 型	Early Infantile Epileptic Encephalopathy 16	TBC1D24	AR
1170	早發幼兒癲癇性腦病 25 型	Early Infantile Epileptic Encephalopathy 25	SLC13A5	AR
1171	早發幼兒癲癇性腦病 28 型	Early Infantile Epileptic Encephalopathy 28	WWOX	AR
1172	早發幼兒癲癇性腦病 34 型	Early Infantile Epileptic Encephalopathy 34	SLC12A5	AR
1173	早發幼兒癲癇性腦病 37 型	Early Infantile Epileptic Encephalopathy 37	FRRS1L	AR
1174	早發幼兒癲癇性腦病 38 型	Early Infantile Epileptic Encephalopathy 38	ARV1	AR
1175	早發幼兒癲癇性腦病 3 型	Early Infantile Epileptic Encephalopathy 3	SLC25A22	AR
1176	早發幼兒癲癇性腦病 44 型	Early Infantile Epileptic Encephalopathy 44	UBA5	AR
1177	早發幼兒癲癇性腦病 48 型	Early Infantile Epileptic Encephalopathy 48	AP3B2	AR
1178	早發幼兒癲癇性腦病 49 型	Early Infantile Epileptic Encephalopathy 49	DENND5A	AR
1179	早發幼兒癲癇性腦病 8 型	Early Infantile Epileptic Encephalopathy 8	ARHGEF9	XL
1180	早發幼兒癲癇性腦病 9 型	Early Infantile Epileptic Encephalopathy 9	PCDH19	XL
1181	增生性血管病變和積水性無腦畸形	Proliferative Vasculopathy And Hydranencephaly- Hydrocephaly Syndrome	FLVCR2	AR
1182	粘脂質貯積症 3α或 3β型	Mucolipidosis III Alpha & Beta	GNPTAB	AR
1183	粘脂質貯積症 3γ型	Mucolipidosis III Gamma	GNPTG	AR
1184	粘脂質貯積症 4 型	Mucolipidosis IV	MCOLN1	AR
1185	長鏈 3-羥醯輔酶 A 脫氫酶缺乏症	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	HADHA	AR
1186	著色性幹皮病 A 組	Xeroderma Pigmentosum Group A	XPA	AR
1187	著色性幹皮病 C 組	Xeroderma Pigmentosum Group C	XPC	AR
1188	著色性幹皮病 G 組	Xeroderma Pigmentosum Group G	ERCC5	AR
1189	枕葉外皮畸形症	Cortical Malformations, Occipital	LAMC3	AR
1190	支鏈酮酸脫氫酶激酶缺乏症	Branched-chain Ketoacid Dehydrogenase Kinase Deficiency	BCKDK	AR
1191	肢帶型肌營養不良 2A 型	Limb-Girdle Muscular Dystrophy Type 2A	CAPN3	AR
1192	肢帶型肌營養不良 2B 型	Limb-Girdle Muscular Dystrophy Type 2B	DYSF	AR
1193	肢帶型肌營養不良 2C 型	Limb-Girdle Muscular Dystrophy Type 2C	SGCG	AR
1194	肢帶型肌營養不良 2D 型	Limb-Girdle Muscular Dystrophy Type 2D	SGCA	AR
1195	肢帶型肌營養不良 2E 型	Limb-Girdle Muscular Dystrophy Type 2E	SGCB	AR
1196	肢帶型肌營養不良 2F 型	Limb-Girdle Muscular Dystrophy Type 2F	SGCD	AR
1197	肢帶型肌營養不良 2G 型	Limb-Girdle Muscular Dystrophy Type 2G	TCAP	AR
1198	肢帶型肌營養不良 2H 型	Limb-Girdle Muscular Dystrophy Type 2H	TRIM32	AR
1199	肢帶型肌營養不良 2S 型	Limb-Girdle Muscular Dystrophy Type 2S	TRAPPC11	AR
1200	肢帶型肌營養不良 2T 型	Limb-Girdle Muscular Dystrophy Type 2T	GMPPB	AR
1201	肢端系膜發育不良 1 型	Acromesomelic Dysplasia 1	NPR2	AR
1202	肢端系膜發育不良 2A 型	Acromesomelic Dysplasia 2A	GDF5	AR
1203	肢端系膜發育不良 3 型	Acromesomelic Dysplasia 3	BMPR1B	AR
1204	肢根點狀軟骨發育不良 1 型	Rhizomelic Chondro Dysplasia Punctata Type 1	PEX7	AR
1205	肢根點狀軟骨發育不良 2 型	Rhizomelic Chondro Dysplasia Punctata Type 2	GNPAT	AR
1206	肢根點狀軟骨發育不良 3 型	Rhizomelic chondro Dysplasia Punctata, Type 3	AGPS	AR
1207	脂蛋白轉移酶缺乏症	Lipoyltransferase 1 Deficiency	LIPT1	AR
1208	脂質先天性腎上腺增生	Lipoid Congenital Adrenal Hyperplasia	STAR	AR
1209	緻密性成骨不全	Pycnodysostosis	CTSK	AR
1210	致死性關節攣縮伴前角細胞病	Lethal Arthrogryposis With Anterior Horn Cell Disease	GLE1	AR
1211	致死性膕翼狀胬肉綜合症	Popliteal Pterygium Syndrome, Lethal Type	RIPK4	AR
1212	致死性先天攣縮綜合症 11 型	Lethal congenital contracture Syndrome 11	GLDN	AR
1213	致死性先天攣縮綜合症 2 型	Lethal Congenital Contracture Syndrome 2	ERBB3	AR
1214	致死性先天攣縮綜合症 3 型	Lethal Congenital Contracture Syndrome 3	PIP5K1C	AR
1215	致死性先天攣縮綜合症 7 型	Lethal Congenital Contracture Syndrome 7	CNTNAP1	AR
1216	致死性限制性皮膚病	Lethal Restrictive Dermopathy	LMNA,ZMP STE24	AR
1217	智力發育障礙伴面部畸形、癲癇發作和遠端肢體異常	Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies	OTUD6B	AR
1218	智力發育障礙伴心律失常	Intellectual Developmental Disorder with Cardiac Arrhythmia	GNB5	AR
1219	中鏈醯基輔酶 A 脫氫酶缺乏症	Acyl-CoA Dehydrogenase Deficiency, Medium-Chain	ACADM	AR
1220	中央凹發育不良 2 型	Foveal Hypoplasia 2	SLC38A8	AR
1221	中央核性肌病 2 型	Centronuclear Myopathy 2	BIN1	AR
1222	重型聯合免疫缺陷伴小頭畸形、生長遲緩及電離輻射敏感	Severe Combined ImmunoDeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation	NHEJ1	AR
1223	重症聯合免疫缺陷（B 細胞和 NK 細胞陽性、T 細胞陰性）	Severe Combined ImmunoDeficiency, T cell-negative, B-cell/natural killer-cell Positive	IL7R	AR
1224	轉鈷胺素Ⅱ缺乏症	Transcobalamin II Deficiency	TCN2	AR
1225	轉醛醇酶缺乏症	Transaldolase Deficiency	TALDO1	AR
1226	自身免疫性多發內分泌腺病綜合症 1 型	Autoimmune Polyendocrine Syndrome Type1	AIRE	AR
1227	綜合症型小眼畸形 12 型	Syndromic Microphthalmia 12	RARB	AR
1228	綜合症型小眼畸形 9 型	Microphthalmia, Syndromic 9	STRA6	AR
1229	組織細胞增多-淋巴結病綜合症	Histiocytosis-lymphadenopathy plus Syndrome	SLC29A3	AR
1230	左心發育不全綜合症 1 型	Hypoplastic Left Heart Syndrome 1	GJA1	AR
1231	左旋芳香族氨基酸脫羧酶缺乏症	Aromatic L-Amino Acid Decarboxylase Deficiency	DDC	AR –

參考資料

[1] Bell, Callum J.,et al. “Carrier testing for severe childhood recessive disease by next-generation sequencing. “Science translational medicine 3.65 (2011): 65ra4-65ra4.

[2] http://www.omim.org/statistics/entry

[3] 所列疾病携帶者率僅適用於中國人群。The morbidity & carrier rates are only applicable to the Chinese population.