rs312262717, SPG11

N. diseases: 18
Disease: Gross motor development delay ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
0.700 CausalMutation CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009