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 GeneticVariation CLINVAR SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 29211846 2018