617020.2.1

Country

Lebanon

HPO Terms

Irritability; Abnormal involuntary eye movements; Hypotonia; Limb hypertonia; Dystonia; Respiratory tract infection; Seizure; Severe global developmental delay; Death in infancy

Back to search Result

Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_022786.2:c.294+1G>A	2		Developmental And Epileptic Encephalopathy 38

Download Table

Remarks

Maternal grandmother had 2 male infants who died in the newborn period and 2 miscarriages of unknown cause

References

Palmer et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617020.2.2	Lebanon		Female	No		Mother of patient 617020.2.1
617020.2.3	Lebanon		Male	No		Father of patient 617020.2.1