277440.1.3

Country

Lebanon
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Sex

Female

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001017535.1:c.1190A>C1

Remarks

Unaffected mother of 277440.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
277440.1.1LebanonHypocalcemia ; Spasticity ; Bilateral tonic-clonic seizure with generalized onset ; Osteoporosis ; Metaphyseal irregularity ; Respiratory tract infection ; Pneumonia ; Cardiac arrest ; Death in childhood ; Normal scalp hair growthMaleYesYesProband
277440.1.2LebanonMaleYesUnaffected father of 277440.1.1
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