Condition: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
rs118203963
in
SPG11
gene and
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
PMID 17322883
2007 Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.