Rare Disease Library

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

Cernunnos-XLF deficiency

Cernunnos XLFD · Cernunnos deficiency

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

Immunodeficiency syndrome with autoimmunity

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Nijmegen breakage syndrome-like disorder

Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder

OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

Syndrome with combined immunodeficiency