608097.1.1

Country

Egypt

HPO Terms

Severe global developmental delay; Autistic behavior; Microcephaly; Abnormal facial shape; Strabismus; Hypotonia; Seizure; Dilation of lateral ventricles; Partial agenesis of the corpus callosum; Abnormal cerebral white matter morphology

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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_006420.3:c.2776C>T	2		Periventricular Heterotopia With Microcephaly, Autosomal Recessive

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References

Makrythanasis et al. 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
608097.1.2	Egypt	Severe global developmental delay; Autistic behavior; Microcephaly; Abnormal facial shape; Strabismus; Hypotonia; Seizure; Dilation of lateral ventricles; Partial agenesis of the corpus callosum; Abnormal cerebral white matter morphology	Male	Yes	Yes	Second-cousin of 608097.1.1