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131100.2
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Subject Details
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
Allele Frequency
Associated Disease
Associated Gene
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
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