619648.2.1

Country

Egypt

HPO Terms

Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Visual impairment; Iris coloboma; Hypoplasia of the corpus callosum

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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_024911.7:c.1433A>G	2	NA	Zaki Syndrome

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Remarks

Patient from 'family 2' in the publication

References

Chai et al. 2021

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619648.2.2	Egypt	Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Visual impairment; Iris coloboma; Hypoplasia of the corpus callosum; Ectrodactyly; Cerebellar vermis hypoplasia	Female		Yes	Sister of 619648.2.1
619648.2.G	Egypt					Relatives of 619648.2.1 & 619648.2.2 (parents+1 brother)