618663.1

Saudi Arabia

Focal-onset seizure; Global developmental delay; Macrocephaly; Cerebral atrophy; Abnormal facial shape

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001378457.1:c.6257_6258insTTACATGA	2		Developmental and Epileptic Encephalopathy 81