Autosomal semi-dominant severe lipodystrophic laminopathy

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A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs trunk and abdomen together with faciocervical fat accumulation. Additional manifestations include diabetes acanthosis nigricans liver steatosis and hypertriglyceridemia as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Autosomal semi-dominant severe lipodystrophic laminopathy?

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