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- Sljepilo za boje
- Beckerova mišićna distrofija
- X-vezana agamaglobulinemija
- Lischova distrofija rožnjačnog epitela
- Aarskog–Scottov sindrom
- Dentova bolest
- Simpson–Golabi–Behmelov sindrom
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- Duchenne muscular dystrophy
- Becker muscular dystrophy
- Lesch–Nyhan syndrome
- Wiskott–Aldrich syndrome
- X-linked ichthyosis
- Norrie disease
- X-linked agammaglobulinemia
- Dyskeratosis congenita
- Ayazi syndrome
- IPEX syndrome
- Simpson–Golabi–Behmel syndrome
- Oculocerebrorenal syndrome
- Hunter syndrome
- McLeod syndrome
- SCARF syndrome
- Hypohidrotic ectodermal dysplasia
- Hyper-IgM syndrome type 1
- Aarskog–Scott syndrome
- Properdin deficiency
- Dent's disease
- Allan–Herndon–Dudley syndrome
- Ocular albinism type 1
- Ichthyosis follicularis with alopecia and photophobia syndrome
- Immunodeficiency with hyperimmunoglobulin M
- X-linked spinal muscular atrophy type 2
- Lisch epithelial corneal dystrophy
- Albinism–deafness syndrome
- X-linked myotubular myopathy
- Smith–Fineman–Myers syndrome
- Mohr–Tranebjærg syndrome
- Morgagni–Stewart–Morel syndrome
- Renpenning's syndrome
- Nasodigitoacoustic syndrome