617281.2

Jordan

Seizure; Global developmental delay; Microcephaly; Poor speech; Anxiety; Hyperactivity; Cerebral calcification

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_015213.4:c.2547del	2	NA	Developmental and Epileptic Encephalopathy 49

Patient from 'family 2' in the publication. Patient had a similarly affected older sister.