616211.3.1

Country

United Arab Emirates

HPO Terms

Failure to thrive; Secondary microcephaly; Severe global developmental delay; Abnormal visual fixation; Absent speech; Axial hypotonia; Hypertonia; Hypokinesia; Optic atrophy; Hypsarrhythmia; Epileptic spasm; Seizure

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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.(?_173)_(409_?)del	2		Developmental and Epileptic Encephalopathy 28

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Remarks

Deletion variant harbored involves exons 3 to 4. The patient had two cousins with spasticity and profound developmental delay. They required ventilation and one died at 4 years of age.

References

Shaukat et al. 2018

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616211.3.2	United Arab Emirates		Male			Father of 616211.3.1
616211.3.3	United Arab Emirates		Female			Mother of 616211.3.1