277440.3.4

Country

Lebanon
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

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

Remarks

Unaffected mother of 277440.3.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
277440.3.1LebanonHypocalcemia ; Alopecia totalis ; Bilateral tonic-clonic seizure with generalized onset ; Subcutaneous nodule ; Broad carpal bones ; Bowing of the legs ; Rachitic rosaryMaleYesYesProband
277440.3.2LebanonHypocalcemia ; Alopecia totalis ; Broad carpal bonesFemaleYesYesSister of 277440.3.1
277440.3.3LebanonMaleYesYesUnaffected father of 277440.3.1
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