rs398122394, ALG13

N. diseases: 17
Disease: Infantile muscular hypotonia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013