277440.5.2

Country

United Arab Emirates
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000376.3:c.821G>A1

Remarks

Unaffected father of 277440.5.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
277440.5.1United Arab EmiratesHypocalcemia ; Broad carpal bones ; Rachitic rosary ; Rickets ; Respiratory tract infection ; HypophosphatemiaMaleYesYesProband
277440.5.3United Arab EmiratesFemaleYesUnaffected mother of 277440.5.1
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