medium chain acyl-CoA dehydrogenase deficiencyheritable retinoblastomafamilial haemophagocytic lymphohistiocytosisX linked hypophosphataemic ricketspyridoxine dependent epilepsysevere combined immunodeficiencyIL2RGrare monogenic diseases15pathogenic variantsbiotinidase deficiency+1 more
…emic rickets, familial haemophagocytic lymphohistiocytosis, and medium chain acyl-CoA dehydrogenase deficiency.SP110.1136/bmjmed-2025-001726.supp1Supplementary dataData sourc…