Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
0.100 GeneticVariation phenotype CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019