Congenital generalized lipodystrophy
Name: |
Congenital generalized lipodystrophy
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Description: |
A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis.
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ORPHAcode: |
528
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Synonyms: |
BSCL
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
CGL
Lipoatrophic diabetes
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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