269700.7.3

Lebanon

Decreased serum leptin; Reduced subcutaneous adipose tissue;

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Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001122955.3:c.509_513delATCGT	2		Lipodystrophy, Congenital Generalized, Type 2

Sibling of 269700.7.2 and first cousin once removed of 269700.7.1

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
269700.7.2	Lebanon	Decreased serum leptin; Reduced subcutaneous adipose tissue; Cardiomyopathy;	Female	Yes	Yes	Sibling of 269700.7.3 and first cousin once removed of 269700.7.1

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