277440.4.1

Country

Saudi Arabia

HPO Terms

Hypocalcemia ; Rickets ; Alopecia ; Hypophosphatemia ; Secondary hyperparathyroidism
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001364085.1:c.137G>T2

Remarks

Proband

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
277440.4.2Saudi ArabiaMaleYesUnaffected father of 277440.4.1
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