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269700.7.2
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Subject Details
Country
Lebanon
HPO Terms
Decreased serum leptin; Reduced subcutaneous adipose tissue; Cardiomyopathy;
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001122955.3:c.509_513delATCGT
2
Lipodystrophy, Congenital Generalized, Type 2
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Remarks
Sibling of 269700.7.3 and first cousin once removed of 269700.7.1
References
Agarwal et al. 2003
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
269700.7.1
Lebanon
Decreased serum leptin; Reduced subcutaneous adipose tissue; Intellectual disability ;
Male
Yes
Yes
First cousin once removed of 269700.7.2 and 269700.7.3
269700.7.3
Lebanon
Decreased serum leptin; Reduced subcutaneous adipose tissue;
Male
Yes
Yes
Sibling of 269700.7.2 and first cousin once removed of 269700.7.1
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