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Severe neurodegenerative syndrome with lipodystrophy

MONDO:0014402

Also known as: severe neurodegenerative syndrome due to BSCL2 deficiency, PELD, encephalopathy, progressive, with or without lipodystrophy

3 clinical trials for this condition and its sub-types, 0 tagged with Severe neurodegenerative syndrome with lipodystrophy itself.

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Part of

↑ Inherited neurodegenerative disorder (808) ↑ Hereditary lipodystrophy (17) ↑ Mendelian encephalopathy (1)

Including sub-types (3) Tagged with Severe neurodegenerative syndrome with lipodystrophy (0)

Trials to join now! 2 Completed 1

Rare fat disorder gene hunt: just 2 patients could unlock answers

Knowledge-focused Completed

This study looked for a new gene that causes hereditary lipodystrophy, a rare disease where people lose body fat and often develop diabetes and heart problems. Researchers studied DNA and cells from 2 patients who had the disease but no known genetic cause. The goal was to find t…

Sponsor: University Hospital, Bordeaux • Aim: Knowledge-focused

Last updated Jun 27, 2026 13:00 UTC