Rare Disease Library

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

Classical Ehlers-Danlos syndrome

Classical EDS · cEDS

Cardiac-valvular Ehlers-Danlos syndrome

Cardiac-valvular EDS · cvEDS

Cranioectodermal dysplasia

CED · Sensenbrenner syndrome

Musculocontractural Ehlers-Danlos syndrome

Musculocontractural EDS · mcEDS

Vascular-like classical Ehlers-Danlos syndrome

Classical EDS due to COL1A1 p.(Arg312Cys) · Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)