131100.2

Country

United Arab Emirates

HPO Terms

Primary hyperparathyroidism; Increased circulating prolactin concentration; Neuroendocrine neoplasm; Insulinoma; Short stature; Hypergonadotropic hypogonadism; Joint hypermobility; Soft skin

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Associated Disease
NM_001370259.2:c.784-9G>A	1	Multiple Endocrine Neoplasia, Type I
NM_000500.9:c.(1-?)_(1488+?)del	2	Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
NM_001365276.2:c.11381-?_11524+?del	2	Ehlers-Danlos Syndrome, Classic-Like

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References

Chen Cardenas et al. 2020