216550.1.2

Country

Oman

HPO Terms

Microcephaly; Global developmental delay; Myopia; Retinopathy; Narrow foot; Narrow palm; Joint hypermobility;
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017890.4:c.7934G>A2

Remarks

Sibling of 216550.1.1 and 216550.1.3

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
216550.1.1OmanMicrocephaly; Global developmental delay; Myopia; Retinopathy; Narrow foot; Narrow palm; Joint hypermobility;FemaleYesYesSibling of 216550.1.2 and 216550.1.3
216550.1.3OmanMicrocephaly; Global developmental delay; Myopia; Retinopathy; Narrow foot; Narrow palm; Joint hypermobility;MaleYesYesSibling of 216550.1.1 and 216550.1.2
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