Observed arrival · 2026-10-31
RPL3L Initiative
A resource for families, clinicians, and researchers focused on RPL3L and the rare neonatal heart disease CMD2D.
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- CMD2D families, clinicians, and researchers
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- The initiative reports 11+ families worldwide with biallelic RPL3L disease across 2020–2026.
Field notes
The page separates family guidance from research and clinical material, including discussion of inheritance, variant mechanisms, and open scientific questions. Its timeline traces work from RPL3L’s 1996 discovery through disease reports beginning in 2020, while the homepage reports 11+ affected families worldwide. A linked Variant Explorer is named, though its operation is not established by the homepage extract.
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