Rare Disease Library

Syndrome with congenital neutropenia as a major feature

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

Dysostosis of genetic origin with limb anomaly as a major feature

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

Genetic malformation syndrome with short stature

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 corpus callosum agenesis/dysgenesis as a major feature

Genetic syndrome with limb malformations as a major feature

Genetic systemic disease with glomerulopathy as a major feature

Hermansky-Pudlak syndrome due to AP-3 deficiency

Hermansky-Pudlak syndrome with neutropenia · Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency

Non-genetic systemic disease with glomerulopathy as a major feature

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

Other syndrome with lissencephaly as a major feature

Rare adrenocortical nodular disease with Cushing syndrome as a major feature

Rare disease with adrenal Cushing syndrome as a major feature

Rare genetic disease with myoclonus as a major feature

Rare genetic disorder with corneal involvement as a major feature

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 alpha-thalassemia as a major feature

Syndrome with congenital phagocyte functional defect as a major feature

Syndrome with congenital functional defect of phagocyte as a major feature · Syndrome with constitutional functional phagocyte defect 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

Syndrome with pulmonary hypertension as a major feature

Systemic disease with glomerulopathy as a major feature