619648.2.2

Country

Egypt

HPO Terms

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

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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

Sister of 619648.2.1

References

Chai et al. 2021

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619648.2.1	Egypt	Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Visual impairment; Iris coloboma; Hypoplasia of the corpus callosum	Female		Yes	Patient from 'family 2' in the publication
619648.2.G	Egypt					Relatives of 619648.2.1 & 619648.2.2 (parents+1 brother)