617020.1.1

Saudi Arabia

Epileptic encephalopathy; Intellectual disability, severe; Ataxia; Poor head control

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_022786.2:c.565G>A	2		Developmental And Epileptic Encephalopathy 38

Second cousin of patient siblings 617020.1.2 and 617020.1.3; Brother passed away at 4 years of age with a similar disorder (no molecular testing).

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617020.1.2	Saudi Arabia	Epileptic encephalopathy; Intellectual disability, severe; Ataxia; Visual impairment	Male	Yes	Yes
617020.1.3	Saudi Arabia	Epileptic encephalopathy; Intellectual disability, severe; Ataxia; Visual impairment	Female	Yes	Yes