Rare Disease Library

Congenital disorder of glycosylation with cardiac malformation as a major feature

CDG with cardiac malformation as a major feature

Chromosomal anomaly with epilepsy as a major feature

Congenital disorder of glycosylation with deafness as a major feature

Congenital disorder of glycosylation with hearing loss as a major feature · CDG with hearing loss as a major feature

Congenital disorder of glycosylation with epilepsy as a major feature

CDG with epilepsy as a major feature

Congenital disorder of glycosylation with nephropathy as a major feature

CDG with nephropathy as a major feature

Congenital malformation of the eye with glaucoma as a major feature

Congenitally uncorrected transposition of the great arteries with cardiac malformation

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

Dysostosis with limb anomaly as a major feature

Genetic cardiac malformation

Genetic congenital malformation of the eye with glaucoma as a major feature

Genetic syndrome with a central nervous system malformation as a major feature

Genetic syndrome with a CNS malformation as major feature

Genetic syndrome with a cerebellar malformation as a major feature

Genetic syndrome with a Dandy-Walker malformation as a major feature

Genetic syndrome with limb malformations as a major feature

Malformation syndrome with short stature

Other syndrome with a central nervous system malformation as a major feature

Rare syndrome with cardiac malformations

Syndrome with a central nervous system malformation as a major feature

Syndrome with a cerebellar malformation as a major feature

Syndrome with a Dandy-Walker malformation as a major feature

Syndrome with limb malformations as a major feature