Attenuated Chédiak-Higashi syndrome

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Attenuated Chédiak-Higashi syndrome

Synonyms: Atypical Chédiak-Higashi syndrome

A very rare and atypical form of Chédiak-Higashi syndrome (CHS) a genetic disorder characterized by partial oculocutaneous albinism severe immunodeficiency mild bleeding neurological dysfunction and lymphoproliferative disorder.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Attenuated Chédiak-Higashi syndrome?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

For a list of clinical trials in this disease area, please click here.