第561章《人類生殖科技條例》

46,XY性別反轉2型 (46XY sex reversal 2)

口——面——指(趾)綜合症1型 (Orofaciodigital syndrome I)

牙釉質發育不全1E型 (Amelogenesis imperfecta, type 1E)

卡曼綜合症1型 (Kallmann syndrome 1)

先天性腎上腺發育不全 (Adrenal hypoplasia, congenital)

色素失調症 (Incontinentia pigmenti)

血友病A (Haemophilia A)

血友病B (Haemophilia B)

局灶性皮膚發育不全 (Focal dermal hypoplasia)

杜氏肌營養不良 (Muscular dystrophy, Duchenne type)

貝克型肌營養不良 (Muscular dystrophy, Becker type)

法布里病 (Fabry disease)

威斯科特——奧爾德里奇綜合症 (Wiskott-Aldrich syndrome)

洛伊氏眼腦腎綜合症 (Lowe oculocerebrorenal syndrome)

脆性X綜合症 (Fragile X syndrome)

眼部白化病1型 (Albinism, ocular, type 1)

鳥氨酸轉羧酶缺乏症 (Ornithine transcarbamylase deficiency)

無脈絡膜症 (Choroideraemia)

腎上腺腦白質營養不良 (Adrenoleukodystrophy)

雄激素不敏感綜合症 (Androgen insensitivity)

微小眼綜合症1型 (Microphthalmia, syndromic 1)

糖原貯積病IXa1型及IXa2型 (Glycogen storage disease, type IXa1 and type IXa2)

諾氏病 (Norrie disease)

磷酸甘油酸激酶1缺乏症 (Phosphoglycerate kinase 1 deficiency)

磷酸核糖焦磷酸合成酶超活性 (Phosphoribosylpyrophosphate synthetase superactivity)

黏多糖貯積症II型 (Mucopolysaccharidosis type II)

鐵粒幼細胞性貧血1型 (Anemia, sideroblastic, 1)

Aarskog-Scott綜合症 (Aarskog-Scott syndrome)

Arts綜合症 (Arts syndrome)

Coffin-Lowry綜合症 (Coffin-Lowry syndrome)

Lesch-Nyhan綜合症 (次黃嘌呤——鳥嘌呤——磷酸核糖轉移酶1缺乏症) (Lesch-Nyhan syndrome (hypoxanthine-guanine-phosphoribosyl transferase 1 deficiency))

Menkes病 (Menkes disease)

X-連鎖中央核肌病 (Myopathy, centronuclear, X-linked)

X-連鎖少汗性外胚層發育不良1型 (Ectodermal dysplasia 1, hypohidrotic, X-linked)

X-連鎖白內障40型 (Cataract 40, X-linked)

X-連鎖先天性角化不良 (Dyskeratosis congenita, X-linked)

X-連鎖先天性腦積水 (Hydrocephalus, congenital, X-linked)

X-連鎖先天性靜止性夜盲症 (Night blindness, congenital stationary, X-linked)

X-連鎖耳聾 (Deafness, X-linked)

X-連鎖血小板減少症 (Thrombocytopenia, X-linked)

X-連鎖低磷酸鹽性佝僂病 (Hypophosphatemic rickets, X-linked)

X-連鎖青少年型視網膜劈裂症1型 (Retinoschisis 1, X-linked, juvenile)

X-連鎖埃默里——德里夫斯肌營養不良1型 (Emery-Dreifuss muscular dystrophy 1, X-linked)

X-連鎖脊髓小腦共濟失調1型 (Spinocerebellar ataxia, X-linked 1)

X-連鎖脊髓延髓肌萎縮症1型 (Spinal and bulbar muscular atrophy, X-linked 1)

X-連鎖晚發性脊柱骨骺發育不良 (Spondyloepiphyseal dysplasia tarda, X-linked)

X-連鎖視網膜色素變性 (Retinitis pigmentosa, X-linked)

X-連鎖脫髮型毛囊角化病 (Keratosis follicularis spinulosa decalvans, X-linked)

X-連鎖智力發育障礙1型 (Intellectual developmental disorder, X-linked 1)

X-連鎖智力發育障礙109型 (Intellectual developmental disorder, X-linked 109)

X-連鎖無丙種球蛋白血症 (Agammaglobulinemia, X-linked)

X-連鎖痙攣性截癱2型 (Spastic paraplegia 2, X-linked)

X-連鎖腎性多尿症1型 (Diabetes insipidus, nephrogenic, 1, X-linked)

X-連鎖慢性肉芽腫病 (Granulomatous disease, chronic, X-linked)

X-連鎖隱性Charcot-Marie-Tooth病5型 (Charcot-Marie-Tooth disease, X-linked recessive, 5)

X-連鎖嚴重聯合免疫缺乏症 (Severe combined immunodeficiency, X-linked)

X-連鎖顯性Charcot-Marie-Tooth病1型 (Charcot-Marie-Tooth neuropathy, X-linked dominant, 1)

X-連鎖Alport綜合症1型 (Alport syndrome 1, X-linked)