616211.4.1

Country

United Arab Emirates

HPO Terms

Hypertonia; Seizure; Hypsarrhythmia; Epileptic spasm; Spasticity; Global developmental delay; Ventilator dependence with inability to wean; Axial hypotonia; Hyperreflexia; Failure to thrive; Secondary microcephaly

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_016373.4:c.606-1G>A	2		Developmental and Epileptic Encephalopathy 28

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References

Shaukat et al. 2018

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616211.4.2	United Arab Emirates		Male			Father of 616211.4.1
616211.4.3	United Arab Emirates		Female			Mother of 616211.4.1