131100.1.1

Country

United Arab Emirates

HPO Terms

Prolactinoma; Decreased response to growth hormone stimulation test; Optic atrophy
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

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

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
131100.1.2United Arab EmiratesMacroprolactinoma; Primary hyperparathyroidism; Neuroendocrine neoplasmFemaleYesMaternal grandmother of 131100.1.1
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