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Attenuated Chédiak-Higashi syndrome

rare

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

Identifiers
MONDO:0018133 Orphanet:352723
Part of
Hereditary peripheral neuropathyInherited neurodegenerative disorder
Also known as
attenuated Chediak-Higashi syndrome · atypical Chediak-Higashi syndrome · atypical Chédiak-Higashi syndrome

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