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 nephropathy as a major feature

CDG with nephropathy as a major feature

Congenital neutropenia

Constitutional neutropenia

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

Isolated constitutional thrombocytopenia

Non-syndromic constitutional thrombocytopenia · Constitutional thrombocytopenia without extra-hematopoietic manifestations

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

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

Syndromic constitutional thrombocytopenia