Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Abnormal timing of pattern reversal visual evoked potentials
0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019