Rare Disease Library

Congenital disorder of glycosylation with nephropathy as a major feature

CDG with nephropathy 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 epilepsy as a major feature

CDG with epilepsy as a major feature

Dysostosis with limb anomaly as a major feature

Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature

Genetic systemic disease with glomerulopathy as a major feature

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

Epidermolysis bullosa simplex with nephropathy · Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome

Non-genetic systemic disease with glomerulopathy 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

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

Systemic disease with glomerulopathy as a major feature