617281.1.1

Country

Saudi Arabia

HPO Terms

Seizure; Facial tics; Involuntary movements; Global developmental delay; Spastic tetraplegia; Absent speech; Microcephaly; Dandy-Walker malformation; Aplasia/Hypoplasia of the cerebellar vermis; Hydrocephalus; Basal ganglia calcification

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_015213.4:c.517_518del	2	NA	Developmental and Epileptic Encephalopathy 49

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Remarks

Patient from 'family 1' in the publication

References

Han et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617281.1.2	Saudi Arabia	Seizure; Microcephaly; Hydrocephalus; Basal ganglia calcification; Exaggerated startle response; Startle-induced seizure; Arachnoid cyst; Agenesis of corpus callosum; Ventriculomegaly	Female	Yes	Yes	Sister of 617281.1.1