OnlineIMD
Spatacsin deficiency
Type
Disease
External link(s)
IEMbase
Gene
SPG11
/ Spatacsin
15q21.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Spatacsin
Disease group(s)
20.5 Disorders of autophagy
Child entries
Autosomal recessive spastic paraplegia type 11
Axonal Charcot-Marie-Tooth disease type 2X
Juvenile amyotrophic lateral sclerosis type 5