Rare Disease Library

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

Autosomal recessive distal renal tubular acidosis with deafness

AR dRTA with deafness · AR dRTA with hearing loss

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 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

Duane retraction syndrome with congenital deafness

Duane retraction syndrome with congenital hearing loss · DURS with hearing loss

Dysostosis with limb and face anomalies as a major feature

Dysostosis with limb anomaly as a major feature

Epilepsy and/or ataxia with myoclonus 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

OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature

OBSOLETE: X-linked CDG with intellectual disability as a major feature

Other syndrome with lissencephaly as a major feature

Rare disease with adrenal Cushing syndrome 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 disorder with Hirschsprung disease as a major feature

Rare genetic disease with myoclonus 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 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 corpus callosum agenesis/dysgenesis as a major feature

Syndrome with limb malformations as a major feature

Syndrome with microcephaly as a major feature

Systemic disease with glomerulopathy as a major feature