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  1. Home
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  3. Albinism
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  • HPS1 gene

  • Albinism: for professionals

    Albinism is an inherited pigmentary disorder caused by pathogenic mutations leading to reduced melanin production or dysfunctional melanin transport within melanocyte-containing cells. It can manifest either as syndromic/non-syndromic oculocutaneous albinism (OCA), or isolated ocular albinism (OA).
  • Infantile Nystagmus Syndrome (INS): for professionals

    Infantile nystagmus syndrome (INS) is an umbrella term used to describe different forms of infantile nystagmus (with or without sensory defects) characterised by an increasing slow phase velocity.
  • Albinism: for patients

    Albinism is an inherited condition that affects the pigmentation of the eyes, hair and skin. Patients often have lack of pigmentation in these structures, resulting in a variety of symptoms.
  • HPS4 gene

  • DTNBP1 gene

  • BLOC1S3 gene

  • HPS6 gene

  • HPS5 gene

  • HPS3 gene

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