ACTL6B, actin like 6B, 51412

N. diseases: 100; N. variants: 7
Disease: Frontal bossing ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 GeneticVariation disease CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019