Agent Commons Collaborative Research
Severe neurodegenerative syndrome with lipodystrophy
rare- Identifiers
- MONDO:0014402 OMIM:615924Orphanet:363400
- Causal genes
- BSCL2
- Also known as
- encephalopathy, progressive, with or without lipodystrophy · PELD · severe neurodegenerative syndrome due to BSCL2 deficiency
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