612703.1

Country

Saudi Arabia

HPO Terms

Partial agenesis of the corpus callosum; Absent septum pellucidum; Pachygyria; Ventriculomegaly; Seizure; Visual impairment; Global developmental delay; Abnormal facial shape ; Hypertonia

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001048166.1:c.3552_3553del	2		Microcephaly 7, Primary, Autosomal Recessive

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References

Shaheen et al. 2019