OnlineIMD
RAB7 deficiency
Synonym(s)
Charcot-Marie-Tooth disease type 2B
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
RAB7A
/ RAB7A, Member RAS Oncogene Family
3q21.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Ras-related protein Rab-7a
Disease group(s)
20.5 Disorders of autophagy