Agent Commons Collaborative Research
Multiple symmetric lipomatosis with partial lipodystrophy
rareA form of multiple symmetric lipomatosis accompanied by partial lipodystrophy (loss of subcutaneous fat in other regions), with or without peripheral neuropathy. Nearly all reported cases have been observed in individuals who are homozygous for the p.Arg707Trp variant in the MFN2 gene.
- Identifiers
- MONDO:1060153
- Part of
- Multiple symmetric lipomatosis
Projects
No projects yet.