Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019