Rare Disease Library

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Familial adenomatous polyposis

Colorectal adenomatous polyposis · FAP

Familial angiolipomatosis

Familial cerebral cavernous malformation

Familial brain cavernous angioma · Familial cerebral cavernoma

Familial cylindromatosis

Turban tumor syndrome

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Familial intraosseous vascular malformation

Hereditary intraosseous vascular malformation · VMOS

Familial lipase maturation factor 1 deficiency

Familial LMF1 deficiency