277440.2.3

Country

Lebanon
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Sex

Female

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001017535.1:c.1171C>A1

Remarks

Unaffected mother of 277440.2.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
277440.2.1LebanonHypocalcemia ; Rickets ; Alopecia ; Waddling gait ; Metaphyseal irregularityFemaleYesYesProband
277440.2.2LebanonMaleYesUnaffected father of 277440.2.1
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