OnlineIMD
Chediak-Higashi syndrome
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
LYST
/ Lysosomal Trafficking Regulator
1q42.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Lysosomal trafficking regulator protein
Disease group(s)
19.4 Disorders of lysosome-related organelle biogenesis
Child entries
Chediak-Higashi syndrome, attenuated form