210720.2.1

Country

Oman

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.5767C>T2NA

Remarks

Patient 'P3' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
210720.2.2OmanMaleYesFather of 210720.2.1
210720.2.3OmanFemaleYesMother of 210720.2.1
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