Attenuated Chédiak-Higashi syndrome

Orpha code: 352723OMIM code:

Definition

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.

Disease data
Classification

Disease

Synonyms
Atypical Chédiak-Higashi syndrome
Atypowy zespół Chédiaka i Higashiego
ORPHA code
352723
OMIM code
-
ICD10 code
E70.3
ICD11 code
-

No additional description.

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