Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Open mouth (finding)
CUI: C0240379
Disease: Open mouth (finding)
0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019