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Partial albinism, immunodeficiency and giant lysosomes with accelerated phase.

Specialty
Hematology
Subspecialty
Hematology / Platelet disorders
Sex & age distribution
Male: affected; Female: affected equally; Children: yes
Gene(s) involved
LYST
Alternative names & eponyms
CHS

Etiology & mechanism

LYST defect in lysosomal trafficking.

Gene(s) involved (1)

Symptoms & signs (6)

In plain terms, someone with Chediak–Higashi syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

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Overlapping symptoms

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