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The List of Carrier Screening – 302 conditions

DISORDER疾病Carrier FrequencyInheritance
3-hydroxy-3-methylglutarayl-CoA (HMG-CoA) lyase deficiency3-羥基-3-甲基戊二酰輔酶A(HMG-CoA)裂解酶缺乏症≤1 in 500AR
3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC1-related)三甲基巴豆醯輔酶A梭化酶缺乏症(MCC1相關)1 in 134AR
3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC2-related)三甲基巴豆醯輔酶A梭化酶缺乏症(MCC2相關)1 in 134AR
ABCC8-related disordersABCC8相關疾病1 in 134AR
Abetalipoproteinemia無β脂蛋白血症≤1 in 500AR
ACAD9 deficiency醯輔酶A去氫酶9缺乏症≤1 in 500≤1 in 500AR
Achromatopsia (CNGB3-related)全色盲(CNGB3相關)1 in 93AR
Acrodermatitis enteropathica腸源性肢端皮炎1 in 354AR
Adenosine deaminase deficiency腺苷脱氨酶缺乏症1 in 224AR
Aicardi-Goutieres syndrome (SAMHD1-related)Aicardi-Goutieres綜合症(SAMHD1相關)≤1 in 500AR
Aldosterone synthase deficiency醛固酮合成酶缺乏症≤1 in 500AR
Alkaptonuria黑尿症1 in 250AR
Alpha-1 antitrypsin deficiencyα1-抗胰蛋白酶缺乏症1 in 13AR
Alpha-mannosidosisα-甘露糖苷貯積症1 in 354AR
Alpha-thalassemia甲型地中海貧血1 in 20AR
Alpha-thalassemia X-linked intellectual disability syndrome伴甲型地中海貧血性聯遺傳智力低下綜合症≤1 in 500X-linked
Alport Syndrome (COL4A3-related)亞伯氏綜合症(COL4A3相關)1 in 354AR
Alport Syndrome (COL4A4-related)亞伯氏綜合症(COL4A4相關)1 in 353AR
Alport Syndrome, X-linked (COL4A5-related)性聯遺傳亞伯氏綜合症(COL4A5相關)≤1 in 500X-linked
Alström syndrome阿爾斯特倫綜合症≤1 in 500AR
Andermann syndrome安德曼綜合症≤1 in 500AR
Arginase deficiency精氨酸酶缺乏症1 in 274AR
Argininosuccinic aciduria精氨基琥珀酸尿症1 in 133AR
Aromatase deficiency芳香化酶缺乏症≤1 in 500AR
Asparagine synthetase deficiency天門冬醯胺合成酶缺乏症≤1 in 500AR
Aspartylglucosaminuria天門冬氨酸葡萄糖胺尿症≤1 in 500AR
Ataxia with vitamin E deficiency共濟失調伴選擇性
維他命E缺乏
≤1 in 500AR
Ataxia-telangiectasia共濟失調微血管擴張症1 in 100AR
Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia自體免疫性多內分泌病變伴陰道念珠菌感染伴外胚層增生不良症1 in 150AR
Autosomal recessive deafness 77常染色體隱性77型失聰≤1 in 500AR
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Charlevoix-Saguenay常染色體隱性痙攣性共濟失調≤1 in 500AR
Bardet-Biedl syndrome (BBS10-related)巴德-畢德氏綜合症(BBS10相關)1 in 354AR
Bardet-Biedl syndrome (BBS12-related)巴德-畢德氏綜合症(BBS12相關)≤1 in 500AR
Bartter syndrome type 4A巴特氏綜合症第4A型≤1 in 500AR
BBS1-related disordersBBS1相關疾病1 in 330AR
BBS2-related disordersBBS2相關疾病≤1 in 500AR
Bernard-Soulier syndrome (GP9-related)Bernard-Soulier綜合症(GP9相關) ≤1 in 500AR
Beta-ketothiolase deficiencyβ-酮硫解酶缺乏症≤1 in 500AR
Biotinidase deficiency生物素酶缺乏症1 in 125AR
Bloom syndrome布隆氏綜合症≤1 in 500AR
Canavan disease海綿狀腦白質營養不良症1 in 159AR
Carbamoylphosphate synthetase I deficiency氨甲酰磷酸合成酶I缺乏症≤1 in 500AR
Carnitine palmitoyltransferase I deficiency肉鹼棕櫚醯基轉移酶I缺乏症≤1 in 500AR
Carnitine palmitoyltransferase II deficiency肉鹼棕櫚醯基轉移酶II缺乏症1 in 182AR
Carpenter syndrome (RAB23-related)Carpenter綜合症(RAB23相關)≤1 in 500AR
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders軟骨-毛髮發育不全-異常增生譜系疾病≤1 in 500AR
Cerebrotendinous xanthomatosis腦腱性黃瘤症1 in 112AR
CFTR-related disorders (including cystic fibrosis)CFTR相關疾病(包括囊狀纖維化)1 in 45AR
Charcot-Marie-Tooth disease (NDRG1-related)進行性神經性腓骨萎縮症(NDRG1相關)≤1 in 500AR
Charcot-Marie-Tooth disease, X-linked (GJB1-related)進行性神經性腓骨萎縮症性聯遺傳(GJB1相關)≤1 in 500X-linked
Chorea-acanthocytosis舞蹈棘狀紅血球症≤1 in 500AR
Choroideremia脈絡膜缺失症≤1 in 500X-linked
Chronic granulomatous disease (CYBA-related)慢性肉芽腫病(CYBA相關)≤1 in 500AR
Chronic granulomatous disease (CYBB-related)慢性肉芽腫病(CYBB相關)≤1 in 500X-linked
Citrin deficiency希特林蛋白缺陷症1 in 313AR
Citrullinemia type 1瓜胺酸血症第1型1 in 120AR
Cockayne syndrome type A柯凱因氏綜合症A型≤1 in 500AR
Cockayne syndrome type B柯凱因氏綜合症B型1 in 377AR
Cohen syndrome科恩綜合症≤1 in 500AR
Combined malonic and methylmalonic aciduria (ACSF3-related)丙二酸及甲基丙二酸聯合尿症(ACSF3相關) 1 in 87AR
Combined oxidative phosphorylation deficiency (GFM1-related)結合性氧化磷酸化缺乏症(GFM1相關)≤1 in 500AR
Combined oxidative phosphorylation deficiency (TSFM-related)結合性氧化磷酸化缺乏症(TSFM相關)≤1 in 500AR
Combined pituitary hormone deficiency (LHX3-related)結合性腦下垂體賀爾蒙缺失(LHX3相關)≤1 in 500AR
Combined pituitary hormone deficiency (PROP1-related)結合性腦下垂體賀爾蒙缺失(PROP1相關)1 in 45AR
Congenital adrenal hyperplasia due to 11-beta-hydroxylase-deficiency先天性腎上腺增生症-11β羥化酶缺失症1 in 194AR
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency先天性腎上腺增生症-21羥化酶缺失症1 in 61AR
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency先天性腎上腺增生症3β羥基類固醇脫氫酶缺乏症2型≤1 in 500AR
Congenital amegakaryocytic thrombocytopenia先天性巨核細胞缺乏血小板低下症≤1 in 500AR
Congenital disorder of glycosylation (ALG6-related)先天性醣基化疾病(ALG6相關)≤1 in 500AR
Congenital disorder of glycosylation (MPI-related)先天性醣基化疾病(MPI相關)≤1 in 500AR
Congenital disorder of glycosylation (PMM2-related)先天性醣基化疾病(PMM2相關)1 in 190AR
Congenital ichthyosis (TGM1-related)先天性魚鱗癬(TGM1相關)1 in 224AR
Congenital insensitivity to pain with anhidrosis先天性痛覺不敏感併無汗症≤1 in 500AR
Congenital myasthenic syndrome (CHRNE-related)先天性肌無力綜合症(CHRNE相關)1 in 200AR
Corneal dystrophy and perceptive deafness角膜失養和感音性失聰症≤1 in 500AR
CYP17A1-related disordersCYP17A1相關疾病≤1 in 500AR
Cystinosis胱胺酸症1 in 158AR
DHDDS-related disordersDHDDS相關疾病≤1 in 500AR
Dihydrolipoamide dehydrogenase deficiency (DLD)二氫硫辛醯胺脫氫酶缺乏症(DLD)≤1 in 500AR
DMD-related dystrophinopathy裘馨氏肌肉萎縮症(DMD相關)≤1 in 500X-linked
Dysferlinopathy肌鐵蛋白缺陷型肌營養不良症1 in 311AR
Dystrophic epidermolysis bullosa (COL7A1-related)營養不良性大皰性表皮鬆解症(COL7A1相關)1 in 370AR
Ehlers-Danlos syndrome, dermatosparaxis type埃勒斯當洛斯綜合症(皮膚脆裂型)≤1 in 500AR
Ellis-van Creveld syndrome (EVC2-related)埃利偉氏綜合症(EVC2相關)1 in 199AR
Ellis-van Creveld syndrome (EVC-related)埃利偉氏綜合症(EVC相關)1 in 220AR
Emery-Dreifuss muscular dystrophy (EMD-related)EmeryDreifuss肌肉萎縮症(EMD相關)≤1 in 500X-linked
Enhanced S-cone syndrome/ retinitis pigmentosa 37增強型S錐綜合症/視網膜色素病變37型≤1 in 500AR
Ethylmalonic encephalopathy乙基丙二酸腦病變≤1 in 500AR
F2-related conditions, including prothrombin-related thrombophiliaF2相關疾病,包括與凝血酶原相關的易栓症1 in 62AR
F5-related conditions, including Factor V Leiden thrombophiliaF5相關疾病,包括第5凝血因子萊頓變異血栓病1 in 26AR
Fabry disease法布瑞氏症≤1 in 500X-linked
Factor IX deficiency (Hemophilia B)凝血因子IX缺乏症(乙型血友病)≤1 in 500X-linked
Factor XI deficiency (Hemophilia C)第11凝血因子缺乏症(血友病C)≤1 in 500AR
Familial dysautonomia家族性自主神經失調症≤1 in 500AR
Familial hypercholesterolemia (LDLRAP1-related)家族性高膽固醇血症(LDLRAP1相關)≤1 in 500AR
Familial hypercholesterolemia (LDLR-related)家族性高膽固醇血症(LDLR相關)1 in 250AR
Familial mediterranean fever家族性地中海熱1 in 64AR
Fanconi anemia type A范科尼貧血A型1 in 345AR
Fanconi anemia type C范科尼貧血C型1 in 417AR
Fanconi anemia type G范科尼貧血G型≤1 in 500AR
FKRP-related disordersFKRP相關疾病1 in 158AR
FKTN-related disordersFKTN相關疾病≤1 in 500AR
Fragile X syndrome脆性X綜合症X-linked
Fumarate hydratase deficiency延胡索酸酶缺乏症≤1 in 500AR
Galactokinase deficiency galactosemia半乳糖激酶缺乏症1 in 122AR
Galactosemia (GALT-related)半乳糖血症(GALT相關)1 in 100AR
Gaucher disease高雪氏症1 in 158AR
Gitelman syndrome (SLC12A3-related)吉特曼氏
綜合症(SLC12A3相關)
1 in 100AR
GJB2-related DFNB1 nonsyndromic hearing loss and deafnessGJB2相關DFNB1非綜合症性聽力損失和耳聾1 in 50AR
GLE1-related disordersGLE1相關疾病≤1 in 500AR
Glucose-6-phosphate dehydrogenase (G6PD) deficiency6-磷酸葡萄糖脫氫酶(G6PD)缺乏症(蠶豆症)1 in 10X-linked
Glutaric acidemia type I戊二酸血症1型1 in 87AR
Glutaric acidemia type IIA戊二酸血症2A型≤1 in 500AR
Glutaric acidemia type IIC戊二酸血症2C型1 in 250AR
Glycine encephalopathy (AMT-related)甘氨酸腦病(AMT相關)1 in 325AR
Glycine encephalopathy (GLDC-related)甘氨酸腦病(GLDC相關)1 in 165AR
Glycogen storage disease type IA肝醣儲積症1A型1 in 177AR
Glycogen storage disease type IB肝醣儲積症1B型1 in 354AR
Glycogen storage disease type II (Pompe disease)肝醣儲積症2型(龐貝氏症)1 in 100AR
Glycogen storage disease type III肝醣儲積症3型1 in 159AR
Glycogen storage disease type IV/ adult polyglucosan body disease肝醣儲積症4型(成人葡萄糖多聚体體病)1 in 387AR
Glycogen storage disease type V肝醣儲積症5型1 in 171AR
Glycogen storage disease type VII肝醣儲積症7型≤1 in 500AR
GP1BA-related conditionsGP1BA相關疾病≤1 in 500AR
GRACILE syndrome/ BCS1L-related disordersGRACILE綜合症/BCS1L相關疾病≤1 in 500AR
Guanidinoacetate methyltransferase deficiency胍基乙酸甲基轉移酶缺乏症≤1 in 500AR
HBB-related hemoglobinopathiesHBB相關血紅蛋白病1 in 49AR
Hereditary fructose intolerance遺傳性果糖不耐症1 in 122AR
Hereditary hemochromatosis type 1遺傳性血色素沉著症1型1 in 4AR
Hereditary hemochromatosis type 2 (HJV-related)遺傳性血色素沉著症2型(HJV相關)≤1 in 500AR
Hereditary hemochromatosis type 3遺傳性血色素沉著症3型≤1 in 500AR
Hermansky-Pudlak syndrome type 1HermanskyPudlak綜合症1型≤1 in 500AR
Hermansky-Pudlak syndrome type 3HermanskyPudlak綜合症3型≤1 in 500AR
Holocarboxylase synthetase deficiency多發性羧化酶缺乏症1 in 224AR
Homocystinuria due to CBS deficiency胱硫醚β合成酶缺乏性高胱氨酸尿症1 in 224AR
Homocystinuria due to MTHFR deficiency高胱胺酸尿症(因缺乏亞甲基四氫葉酸還原酶)≤1 in 500AR
Homocystinuria, cobalamin E type高胱胺酸尿症(鈷胺素E型)≤1 in 500AR
HSD17B4-related disordersHSD17B4相關疾病1 in 158AR
Hydrolethalus syndrome type 1Hydrolethalus綜合症1型≤1 in 500AR
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome高鳥氨酸血症-高氨血症-同型瓜氨酸尿綜合症≤1 in 500AR
Hypohidrotic ectodermal dysplasia (EDA-related)少汗性外胚層發育不良症(EDA相關)≤1 in 500X-linked
Hypophosphatasia低磷酸酯酶症1 in 150AR
Inclusion body myopathy 2包涵體肌炎2型1 in 179AR
Isovaleric acidemia異戊酸血症1 in 250AR
Joubert syndrome 2/ TMEM216-related disorders茹貝爾綜合症2型/TMEM216相關疾病≤1 in 500AR
Junctional epidermolysis bullosa (LAMB3-related)接合性表皮溶解水皰症(LAMB3相關)1 in 317AR
Junctional epidermolysis bullosa (LAMC2-related)接合性表皮溶解水皰症(LAMC2相關)≤1 in 500AR
KCNJ11-related disordersKCNJ11相關疾病≤1 in 500AR
Krabbe disease球細胞腦白質失養症(Krabbe病)1 in 158AR
LAMA2-related muscular dystrophyLAMA2相關肌肉失養症1 in 87AR
LAMA3-related disordersLAMA3相關疾病≤1 in 500AR
Leber congenital amaurosis 10/ CEP290-related disorders萊伯氏先天性黑矇症10型/CEP290相關疾病1 in 185AR
Leber congenital amaurosis 13萊伯氏先天性黑矇症13型1 in 460AR
Leber congenital amaurosis 5萊伯氏先天性黑矇症5型≤1 in 500AR
Leber congenital amaurosis 8/ CRB1-related disorders萊伯氏先天性黑矇症8型/CRB1相關疾病1 in 112AR
Leigh syndrome, French Canadian type Leigh綜合症法裔加拿大型≤1 in 500AR
Leukoencephalopathy with vanishing white matter (EIF2B5-related)白質消融性白質腦病(EIF2B5相關)≤1 in 500AR
Limb-girdle muscular dystrophy type 2A (calpainopathy)肢帶型肌肉失養症2A型(鈣蛋白酶病)1 in 134AR
Limb-girdle muscular dystrophy type 2C肢帶型肌肉失養症2C型≤1 in 500AR
Limb-girdle muscular dystrophy type 2D肢帶型肌肉失養症2D型≤1 in 500AR
Limb-girdle muscular dystrophy type 2E肢帶型肌肉失養症2E型≤1 in 500AR
Lipoid congenital adrenal hyperplasia先天性類脂性腎上腺皮質增生症≤1 in 500AR
Lipoprotein lipase deficiency脂蛋白酶脂解酵素缺乏症≤1 in 500AR
Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency長鏈3-羥烷基輔酶A脫氫酶缺乏症1 in 350AR
Lysinuric protein intolerance賴氨酸尿蛋白不耐受症≤1 in 500AR
Lysosomal acid lipase deficiency溶酶體酸性脂肪酶缺乏症1 in 359AR
Major histocompatibility complex class II deficiency (CIITA-related)主要組織相容性複合體Ⅱ類分子缺陷(CIITA相關)≤1 in 500AR
Maple syrup urine disease (MSUD) type 1A楓糖尿症1A型1 in 373AR
Maple syrup urine disease (MSUD) type 1B楓糖尿症1B型1 in 346AR
Maple syrup urine disease (MSUD) type 2楓糖尿症2型≤1 in 500AR
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency中鏈醯輔酶Α去氫酶缺乏症1 in 66AR
Megalencephalic leukoencephalopathy with subcortical cysts type 1巨腦性腦白質病伴皮層下囊腫1型≤1 in 500AR
Menkes disease/ ATP7A-related disorders孟克斯氏症/ATP7A相關疾病≤1 in 500X-linked
Metachromatic leukodystrophy (ARSA-related)異染性腦白質營養不良(ARSA相關)  1 in 100AR
Methylmalonic acidemia (MMAA-related)甲基丙二酸血症(MMAA相關)1 in 316AR
Methylmalonic acidemia (MMAB-related)甲基丙二酸血症(MMAB相關)1 in 456AR
Methylmalonic acidemia (MUT-related)甲基丙二酸血症(MUT相關)1 in 204AR
Methylmalonic acidemia with homocystinuria, cobalamin C type甲基丙二酸血症併高胱胺酸血症(鈷胺素C型)1 in 123AR
Methylmalonic acidemia with homocystinuria, cobalamin D type甲基丙二酸血症併高胱胺酸血症(鈷胺素D型)≤1 in 500AR
Microphthalmia /clinical anophthalmia (VSX2-related)小眼畸形/臨床無眼畸形(VSX2相關)≤1 in 500AR
Mitochondrial complex I deficiency/ Leigh syndrome (NDUFAF5-related)粒線體酵素複合物I缺乏症/Leigh綜合症(NDUFAF5相關)≤1 in 500AR
Mitochondrial complex II deficiency/ Leigh syndrome (NDUFS6- related)粒線體酵素複合物II缺乏症/Leigh綜合症(NDUFS6相關)≤1 in 500AR
Mitochondrial DNA depletion syndrome (MPV17-related)粒線體DNA耗竭綜合症(MPV17相關)≤1 in 500AR
Mitochondrial myopathy and sideroblastic anemia 1粒線體肌病和鐵粒細胞性貧血1型≤1 in 500AR
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease粒線體神經胃腸腦病變症≤1 in 500AR
MKS1-related disordersMKS1相關疾病1 in 260AR
Mucolipidosis type II/III (GNPTAB-related)黏脂質症2/3型(GNPTAB相關)1 in 200AR
Mucolipidosis type III (GNPTG-related)黏脂質症3型(GNPTG相關)≤1 in 500AR
Mucolipidosis type IV黏脂質症4型≤1 in 500AR
Mucopolysaccharidosis type I黏多醣症1型1 in 148AR
Mucopolysaccharidosis type II (Hunter syndrome)黏多醣症2型(韓特氏綜合症)≤1 in 500X-linked
Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)黏多醣症3A型(聖菲利柏氏綜合症A型)1 in 215AR
Mucopolysaccharidosis type IIIB (Sanfilippo B syndrome)黏多醣症3B型(聖菲利柏氏綜合症B型)1 in 224AR
Mucopolysaccharidosis type IIIC (Sanfilippo C syndrome)/ retinitis pigmentosa 73黏多醣症3C型(聖菲利柏氏綜合症C型)/視網膜色素病變73型≤1 in 500AR
Mucopolysaccharidosis type IIID (Sanfilippo D syndrome)黏多醣症3D型(聖菲利柏氏綜合症D型)≤1 in 500AR
Mucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosis黏多醣症4B型(莫奎歐綜合症B型)/GM1神經節苷脂儲積症1 in 158AR
Mucopolysaccharidosis type IX黏多醣症9型≤1 in 500AR
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)黏多醣症6型(Maroteaux-Lamy綜合症)1 in 250AR
Multiple sulfatase deficiency多發性硫酸脂酶缺乏症≤1 in 500AR
N-Acetylglutamate synthase deficiencyN-乙醯穀胺酸合成酶缺乏症≤1 in 500AR
Nemaline myopathy 2桿狀體肌症-2型1 in 158AR
Nephrogenic diabetes insipidus (AQP2-related)腎性尿崩症(AQP2相關)≤1 in 500AR
Nephrotic syndrome/ congenital Finnish nephrosis (NPHS1-related)腎病綜合症(NPHS1相關) ≤1 in 500AR
Nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related)類固醇抗性腎病綜合症(NPHS2相關)≤1 in 500AR
Neuronal ceroid lipofuscinosis (TPP1-related)神經元蠟樣脂褐質沉著症(TPP1相關)1 in 250AR
Neuronal ceroid-lipofuscinosis (CLN3-related)神經元蠟樣脂褐質沉著症(CLN3相關)1 in 230AR
Neuronal ceroid-lipofuscinosis (CLN5-related)神經元蠟樣脂褐質沉著症(CLN5相關)≤1 in 500AR
Neuronal ceroid-lipofuscinosis (CLN6-related)神經元蠟樣脂褐質沉著症(CLN6相關)≤1 in 500AR
Neuronal ceroid-lipofuscinosis (MFSD8-related)神經元蠟樣脂褐質沉著症(MFSD8相關)≤1 in 500AR
Neuronal ceroid-lipofuscinosis (PPT1-related)神經元蠟樣脂褐質沉著症(PPT1相關)1 in 199AR
Neuronal ceroid-lipofuscinosis/ Northern epilepsy (CLN8-related)神經元蠟樣脂褐質沉著症/北方癲癇型(CLN8相關)≤1 in 500AR
Niemann-Pick disease type A/B尼曼匹克症A/B型1 in 250AR
Niemann-Pick disease type C (NPC1-related)尼曼匹克症C型(NPC1相關)1 in 183AR
Niemann-Pick disease type C (NPC2-related)尼曼匹克症C型(NPC2相關)≤1 in 500AR
Nijmegen breakage syndrome奈梅亨破損綜合症≤1 in 500AR
OPA3-related conditionsOPA3相關疾病≤1 in 500AR
Ornithine aminotransferase deficiency鳥胺酸酮酸轉胺酶缺乏症≤1 in 500AR
Ornithine transcarbamylase (OTC) deficiency鳥胺酸氨甲醯基轉移酶缺乏症≤1 in 500X-linked
Osteopetrosis (TCIRG1-related)骨質石化症(TCIRG1相關)1 in 317AR
Pendred syndromePendred氏綜合症1 in 80AR
Peroxisomal acyl-CoA oxidase deficiency過氧化物酶酰基輔酶A氧化酶缺乏症≤1 in 500AR
Phenylalanine hydroxylase deficiency (including Phenylketonuria (PKU))苯丙氨酸羥化酶缺乏症(包括苯酮尿症)1 in 58AR
Phosphoglycerate dehydrogenase deficiency/ Neu-Laxova syndrome type 1磷酸甘油酸脫氫酶缺乏症/Neu-Laxova綜合症1型≤1 in 500AR
Polycystic kidney disease (PKHD1-related)多囊性腎病變(PKHD1相關)1 in 70AR
Polymicrogyria (ADGRG1-related)多小腦回(ADGRG1相關)≤1 in 500AR
POMGNT1-related disordersPOMGNT1相關疾病≤1 in 500AR
Pontocerebellar hypoplasia (RARS2-related)橋腦小腦發育不全(RARS2相關)≤1 in 500AR
Pontocerebellar hypoplasia (SEPSECS-related)橋腦小腦發育不全(SEPSECS相關)≤1 in 500AR
Postnatal progressive microcephaly with seizures and brain atrophy/ Infantile cerebral and cerebellar atrophy (MED17-related)產後進行性小頭畸形伴癲癇發作和腦萎縮/嬰兒腦和小腦萎縮(MED17相關)≤1 in 500AR
Primary carnitine deficiency原發性肉鹼缺乏症1 in 71AR
Primary Ciliary Dyskinesia (DNAH5-related)原發性纖毛運動障礙(DNAH5相關)1 in 109AR
Primary Ciliary Dyskinesia (DNAI1-related)原發性纖毛運動障礙(DNAI1相關)1 in 250AR
Primary Ciliary Dyskinesia (DNAI2-related)原發性纖毛運動障礙(DNAI2相關)1 in 354AR
Primary hyperoxaluria type 1原發性高草酸尿症1型1 in 135AR
Primary hyperoxaluria type 2原發性高草酸尿症2型≤1 in 500AR
Primary hyperoxaluria type 3原發性高草酸尿症3型1 in 354AR
Progressive familial intrahepatic cholestasis type 2進行性家族性肝內膽汁滯留症2型1 in 100AR
Propionic acidemia (PCCA-related)丙酸血症(PCCA相關)1 in 224AR
Propionic acidemia (PCCB-related)丙酸血症(PCCB相關)1 in 224AR
PRPS1-related disordersPRPS1相關疾病≤1 in 500X-linked
PSAP-related disordersPSAP相關疾病≤1 in 500AR
Pycnodysostosis緻密性成骨不全症1 in 438AR
Pyruvate carboxylase deficiency丙酮酸羧化酶缺乏症1 in 250AR
Pyruvate dehydrogenase complex deficiency (PDHA1-related)丙酮酸鹽脫氫酶缺乏症(PDHA1相關)≤1 in 500X-linked
Pyruvate dehydrogenase complex deficiency (PDHB-related)丙酮酸鹽脫氫酶缺乏症(PDHB相關)≤1 in 500AR
RAPSN-related disordersRAPSN相關疾病1 in 283AR
Renal tubular acidosis with deafness (ATP6V1B1-related)腎小管酸中毒伴失聰(ATP6V1B1相關)≤1 in 500AR
Retinitis pigmentosa 25視網膜色素病變25型1 in 129AR
Retinitis pigmentosa 26視網膜色素病變26型1 in 137AR
Retinitis Pigmentosa 28視網膜色素病變28型1 in 289AR
Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related)肢近端型點狀軟骨發育不良1型/雷弗素姆病(PEX7相關)1 in 157AR
Rhizomelic chondrodysplasia punctata type 3肢近端型點狀軟骨發育不良3型≤1 in 500AR
Roberts syndrome羅伯氏綜合症≤1 in 500AR
RPE65-related disordersRPE65相關疾病1 in 228AR
RPGRIP1L-related disordersRPGRIP1L相關疾病1 in 259AR
RTEL-1-related disordersRTEL-1相關疾病≤1 in 500AR
Sandhoff diseaseSandhoff病/GM2神經節苷脂儲積症1 in 180AR
Schimke immuno-osseous dysplasiaSchimke免疫骨發育不良≤1 in 500AR
Severe combined immune deficiency (DCLRE1C-related)嚴重聯合免疫缺陷症(DCLRE1C相關)≤1 in 500AR
Severe combined immunodeficiency (RAG2-related)嚴重聯合免疫缺陷症(RAG2相關) ≤1 in 500AR
Severe congenital neutropenia due to VPS45-deficiency嚴重先天性嗜中性球減少症(因VPS45缺失)≤1 in 500AR
Severe congenital neutropenia type 3嚴重先天性嗜中性球減少症3型≤1 in 500AR
Sialic acid storage disorders唾液酸貯積症≤1 in 500AR
Sjögren-Larsson syndromeSjögren-Larsson氏綜合症≤1 in 500AR
SLC26A2-related disordersSLC26A2相關疾病1 in 158AR
SLC35A3-related disordersSLC35A3相關疾病≤1 in 500AR
Smith-Lemli-Opitz syndromeSmith-Lemli-Opitz綜合症1 in 71AR
Spastic paraplegia type 15痙攣性下身麻痺15型≤1 in 500AR
Spastic paraplegia type 49痙攣性下身麻痺49型≤1 in 500AR
Spinal muscular atrophy脊髓性肌肉萎縮症1 in 50AR
Spondylothoracic dysostosis脊椎肋骨發育不全1 in 224AR
Steel Syndrome鋼鐵綜合症≤1 in 500AR
Stüve-Wiedemann syndromeStüve-Wiedemann綜合症≤1 in 500AR
Tay-Sachs disease/ hexosaminidase A deficiency戴薩克斯症/己醣胺酶A缺乏症1 in 250AR
Tetrahydrobiopterin deficiency (PTS-related)四氫生物蝶呤缺乏症(PTS相關)1 in 433AR
Transient infantile liver failure急性新生兒肝衰竭≤1 in 500AR
Tyrosine hydroxylase deficiency酪胺酸羥化酶缺乏症≤1 in 500AR
Tyrosinemia type I酪胺酸血症1型1 in 125AR
Tyrosinemia type II酪胺酸血症2型1 in 250AR
Usher syndrome type IB/ MYO7A-related disorders尤塞氏綜合症1B型/MYO7A相關疾病1 in 200AR
Usher syndrome type IC/ USH1C-related disorders尤塞氏綜合症1C型/USH1C相關疾病1 in 353AR
Usher syndrome type ID尤塞氏綜合症1D型1 in 202AR
Usher syndrome type IF/ PCDH15-related disorders尤塞氏綜合症1F型/PCDH15相關疾病1 in 400AR
Usher syndrome type IIA/ USH2A-related disorders尤塞氏綜合症2A型/USH2A相關疾病1 in 112AR
Usher syndrome type IIIA尤塞氏綜合症3A型≤1 in 500AR
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency特長鏈醯輔酶A去氫酶缺乏症1 in 100AR
VRK1-related disordersVRK1相關疾病≤1 in 500AR
Wilson disease威爾森氏症1 in 90AR
WNT10A-related disordersWNT10A相關疾病1 in 305AR
Xeroderma pigmentosum complementation group A著色性乾皮症-A型≤1 in 500AR
Xeroderma pigmentosum complementation group C著色性乾皮症-C型≤1 in 500AR
X-linked adrenoleukodystrophy性聯遺傳腎上腺白質營養不良≤1 in 500X-linked
X-linked creatine transporter deficiency性聯遺傳肌酸轉運載體缺乏症≤1 in 500X-linked
X-linked juvenile retinoschisis性聯遺傳視網膜裂損症≤1 in 500X-linked
X-linked myotubular myopathy性聯遺傳肌小管病變≤1 in 500X-linked
X-linked severe combined immunodeficiency (X-SCID)性聯遺傳嚴重聯合免疫缺陷症≤1 in 500X-linked
Zellweger spectrum disorder (PEX10-related)柴爾維格氏症(PEX10相關) ≤1 in 500AR
Zellweger spectrum disorder (PEX12-related)柴爾維格氏症(PEX12相關) 1 in 409AR
Zellweger spectrum disorder (PEX1-related)柴爾維格氏症(PEX1相關)1 in 144AR
Zellweger spectrum disorder (PEX2-related)柴爾維格氏症(PEX2相關) ≤1 in 500AR
Zellweger spectrum disorder (PEX6-related)柴爾維格氏症(PEX6相關) 1 in 294AR