Rare Disease Library

Congenital disorder of glycosylation with epilepsy as a major feature

CDG with epilepsy as a major feature

Chromosomal anomaly with epilepsy as a major feature

Congenital disorder of glycosylation with cardiac malformation as a major feature

CDG with cardiac malformation 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 nephropathy as a major feature

CDG with nephropathy as a major feature

Dysostosis with limb anomaly as a major feature

Epilepsy and/or ataxia with myoclonus as a major feature

Epilepsy with auditory features

Autosomal dominant epilepsy with auditory features · EAF

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

Genetic syndrome with a CNS malformation as major feature

Non progressive epilepsy and/or ataxia with myoclonus as a major feature

OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature

Other syndrome with lissencephaly as a major feature

Rare disease with glaucoma as a major feature

Rare disease with myoclonus as a major feature

Rare disorder with corneal involvement as a major feature

Rare genetic disease with myoclonus as a major feature

Syndrome with a cerebellar malformation as a major feature

Syndrome with alpha-thalassemia as a major feature

Syndrome with congenital neutropenia as a major feature

Syndrome with constitutional neutropenia as a major feature · Syndrome with genetic neutropenia as a major feature

Syndrome with limb malformations as a major feature

Syndrome with microcephaly as a major feature