Rare Disease Library

Congenitally uncorrected transposition of the great arteries with cardiac malformation

Congenitally uncorrected transposition of the great vessels with cardiac malformation · TGA with cardiac malformation

Aortic malformation

Arnold-Chiari malformation type I

Arnold-Chiari malformation type 1 · Chiari malformation type 1

Cerebellar malformation

Cerebral malformation with epilepsy

Congenital disorder of glycosylation with cardiac malformation as a major feature

CDG with cardiac malformation as a major feature

Congenitally uncorrected transposition of the great arteries with coarctation

Congenitally uncorrected transposition of the great vessels with coarctation · TGA with coarctation

Cranial malformation

Genetic cardiac malformation

Glomuvenous malformation

Glomangiomatosis · Hereditary multiple glomangiomas

Malformation syndrome with hamartosis

Dysmorphologic diseases with phakomatosis

Malformation syndrome with short stature

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

Rare syndrome with cardiac malformations

Thoracic malformation

White forelock with malformations