131100.1.2

Country

United Arab Emirates

HPO Terms

Macroprolactinoma; Primary hyperparathyroidism; Neuroendocrine neoplasm
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Sex

Female

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000244.3:c.789G>A1

Remarks

Maternal grandmother of 131100.1.1

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
131100.1.1United Arab EmiratesProlactinoma; Decreased response to growth hormone stimulation test; Optic atrophyMaleYesYes
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