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VEXAS-syndrome
UBA1
VEXAS syndrome
Centrum Medische Genetica - UZ Gent
Long chain 3-hydroxyl-CoA dehydrogenase deficiency (hot spot mutation - p.Glu510Gln)
HADHA
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Blepharophimosis type I /II
FOXL2
Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
,
Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
Centrum Medische Genetica - UZ Gent
Autoimmune lymphoproliferative syndrome
FASLG
Autoimmune lymphoproliferative syndrome
Centrum Menselijke Erfelijkheid - KUL
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