OnlineIMD
Mucolipin 1 deficiency
Synonym(s)
Mucolipidosis type 4
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
MCOLN1
/ Mucolipin 1
19p13.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Mucolipin-1
Disease group(s)
20.6 Mucolipidoses