210720.3.1

Country

Oman

HPO Terms

Global developmental delay; Failure to thrive
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006031.5:c.1336C>T2NA

Remarks

Patient 'P10' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
210720.3.2OmanMaleYesFather of 210720.3.1
210720.3.3OmanFemaleYesMother of 210720.3.1
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