Chediak-Higashi Syndrome
Autosomal recessive
ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.
Genes analysed
Also known as
CHS; Chédiak-Higashi disease; Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome
