617389.1.2

Oman; United Arab Emirates

Seizure; Global developmental delay; Hypotonia; Absent speech; Hypsarrhythmia; Cerebral atrophy

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003895.3:c.709C>T	2		Developmental and Epileptic Encephalopathy 53

Relative of 617389.1.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617389.1.1	Oman; United Arab Emirates	Seizure; Global developmental delay; Hypotonia; Absent speech; Hypsarrhythmia; Scoliosis	Female	Yes	Yes	Emirati of Omani origin