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. 2022 Apr 11;10(5):1846–1856. doi: 10.1016/j.gendis.2022.03.016

Table 2.

Congenital Generalized Lipodystrophy diagnosis criteria.

Major criteria
Insulin resistance
Loss of subcutaneous fat affecting both trunk and limbs
Acromegaloid features
Hepatomegaly
Hypertriglyceridemia
Minor criteria
Early onset of puberty in females
Mental retardation
Hypertrophic cardiomyopathy
Hypertrichosis
Prominent veins
Bone cysts
Diagnosis
Presence of 3 major criteria OR 2 Major with ≥2 Minor criteria AND/OR Identification of mutation on CGL linked genes