HUMAN REPRODUCTIVE TECHNOLOGY
ORDINANCE
Focal dermal hypoplasia (X-linked dominant, male lethal) (局灶性皮膚發育不良(與X染色體有關連的顯性，對男性而言可致死))
Glucose 6-phosphate dehydrogenase deficiency (葡糖6磷酸脫氫酶缺乏)
Glycogen storage disease, type VIII (糖原貯積症(第VIII類型))
Gonadal dysgenesis (XY female type) (性腺發育不全(XY女性類型))
Granulomatous disease (chronic) (慢性肉芽腫病)
Haemophilia A (血友病A)
Haemophilia B (血友病B)
Hydrocephalus (aqueduct stenosis) (腦積水(中腦水管狹窄))
Hypophosphataemic rickets (低磷酸血性佝僂病)
Ichthyosis (steriod sulphatase deficiency) (魚鱗癬 (steriod sulphatase缺乏))
Incontinentia pigmenti (X-linked dominant, male lethal) (色素失節症(與X染色體有關連的顯性，對男性而言可致死))
Kallmann syndrome (Kallmann 綜合症)
Keratosis follicularis spinulosa (Spinulosa毛囊角化病)
Lesch-Nyhan syndrome (hypoxanthine-guanine-phosphoribosyl transferase deficiency) (Lesch-Nyhan綜合症(次黃嘌呤——鳥嘌呤——磷酸核糖轉移酶缺乏))
Lowe (oculocerebrorenal) syndrome (Lowe(眼腦腎)綜合症)
Macular dystrophy of the retina (視網膜黃斑營養不良)
Menkes syndrome (Menkes綜合症)
Mental retardation, FMRI type (智力遲緩 (FMRI型))
Mental retardation, FRAXE type (智力遲緩 (FRAXE型))
Mental retardation, MRXI type (智力遲緩 (MRXI型))
Microphthalmia with multiple anomalies (Lenz syndrome) (小眼症(並有多種畸型) (Lenz綜合症))
Mucopolysaccharidosis II (Hunter syndrome) (黏多糖貯積病II (Hunter綜合症))
Muscular dystrophy, Becker type (肌營養不良 (Becker型))
Muscular dystrophy, Duchenne type (肌營養不良 (Duchenne型))
Muscular dystrophy, Emery-Dreifuss type (肌營養不良 (Emery-Dreifuss型))
Myotubular myopathy (肌小管肌病)
Night blindness, congenital stationary (先天性靜止性夜盲症)
Norrie’s disease (pseudoglioma) (Norrie’s 病 (假性神經膠質瘤))
Nystagmus, oculomotor or ‘jerky’ (眼球震顫 (眼球運動的或抽動的))
Ornithine transcarbamylase deficiency (type I hyperammonaemia) (鳥氨酸胺甲酰轉移酶缺陷症(高氨血症第I類型))
Orofaciodigital syndrome (type I) (X-linked dominant, male lethal) (口——面——指(趾)綜合症(第I類型)(與X染色體有關連的顯性，對男性而言可致死))
Perceptive deafness, DNFZ type (感覺性聾症 (DNFZ型))
Perceptive deafness, with ataxia and loss of vision (感覺性聾症(並有共濟失調和喪失視力))
Phosphoglycerate kinase deficiency (磷酸甘油酸激酶缺乏)
Phosphoribosylpyrophosphate (PRPP) synthetase deficiency (磷酸核糖焦磷酸合成酶缺乏)
Reifenstein syndrome (Reifenstein綜合症)
Retinitis pigmentosa (視網膜色素變性)
Retinoschisis (視網膜裂)
Spastic paraplegia (痙攣性痳痺)
Spinal muscular atrophy (脊椎肌萎縮)
Spondyloepiphyseal dysplasia tarda (遲發性脊椎骨骺發育不全)
