has material basis in germline mutation in LYST congenital nervous system disorder Chediak-Higashi syndrome https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome https://www.malacards.org/card/chediak_higashi_syndrome CHS 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. UMLS:C0007965 MedDRA:10008415 MESH:D002609 NANDO:2200724 DOID:2935 Chediak-Higashi syndrome Chédiak-Higashi syndrome NORD:921 NANDO:1200639 MEDGEN:3347 Chediak Higashi syndrome ChC)diak-Higashi disease Chédiak-Higashi disease NCIT:C2941 NANDO:1200350 GARD:0006035 Orphanet:167 MONDO:0008963 OMIM:214500 SCTID:111396008 Chédiak-Higashi-Steinbrink syndrome ICD10CM:E70.330 Chediak Higashi Syndrome ChC)diak-Higashi-Steinbrink syndrome constitutional neutropenia hereditary hemophagocytic lymphohistiocytosis syndromic oculocutaneous albinism disorder of lysosomal-related organelles hereditary peripheral neuropathy inherited neurodegenerative disorder