616211.1.1

Country

United Arab Emirates

HPO Terms

Seizure; Horizontal nystagmus; Flexion contracture; Hand clenching; Spasticity; Hyperreflexia; Inguinal hernia; Hypsarrhythmia; Cerebral atrophy; Polymicrogyria; Optic atrophy; Unilateral deafness

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_016373.3:c.410-17474_516+10296del	2		Developmental and Epileptic Encephalopathy 28

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References

Ben-Salem et al. 2015

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616211.1.2	United Arab Emirates		Female			Mother of 616211.1.1