Attenuated Chédiak-Higashi syndrome
Attenuated Chédiak-Higashi syndrome
Definition
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.
Also known as attenuated Chediak-Higashi syndrome, atypical Chediak-Higashi syndrome — per MONDO