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 NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024911.7:c.1433A>G2NA

Remarks

Patient from 'family 2' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
619648.2.2EgyptGlobal developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Visual impairment; Iris coloboma; Hypoplasia of the corpus callosum; Ectrodactyly; Cerebellar vermis hypoplasiaFemaleYesSister of 619648.2.1
619648.2.GEgyptRelatives of 619648.2.1 & 619648.2.2 (parents+1 brother)
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