Disease: Myoclonic Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.010 GeneticVariation phenotype BEFREE We identified a de novo frameshift variant (NM_015048.1:c.5644_5647del:p.(Ile1882Serfs*118)) in the last exon of SETD1B in a Japanese patient with autistic behavior, developmental delay, intellectual disability, and myoclonic seizures. 31110234 2019