210720.4.1

Country

Palestine

HPO Terms

Global developmental delay; Failure to thrive; Moyamoya phenomenon
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006031.6:c.2984_2994del2NA

Remarks

Patient 'P14' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
210720.4.2PalestineMaleYesFather of 210720.4.1
210720.4.3PalestineFemaleYesMother of 210720.4.1
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