262190.1.1

Country

United Arab Emirates

HPO Terms

Short stature; Coarse facial features; Global developmental delay; Nephrocalcinosis; Insulin-resistant diabetes mellitus; Acanthosis nigricans; Hyperkeratosis

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000208.4:c.421C>T	2		Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities

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References

Bastaki et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
262190.1.2	United Arab Emirates		Male			Father of 262190.1.1
262190.1.3	United Arab Emirates		Female			Mother of 262190.1.1

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Country

HPO Terms

Sex

Parental Consanguinity

Subject Variants

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References

Related Subjects

© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.