210720.1.1

Country

Iraq

HPO Terms

Global developmental delay; Failure to thrive
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006031.5:c.1042G>T2NA

Remarks

Patient 'P16' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
210720.1.2IraqMaleYesFather of 210720.1.1
210720.1.3IraqFemaleYesMother of 210720.1.1
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