Rare Disease Library

ICF syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome · Immunodeficiency-centromeric instability-facial anomalies syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Combined immunodeficiency due to DOCK8 deficiency

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

Combined immunodeficiency with facio-oculo-skeletal anomalies

Roifman-Chitayat syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

Immunodeficiency syndrome with autoimmunity

Intellectual disability-facial dysmorphism-hand anomalies syndrome

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

Nijmegen breakage syndrome-like disorder

Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder

Syndrome with combined immunodeficiency