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

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

ICF syndrome

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

Immunodeficiency syndrome with autoimmunity

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Microcephaly-deafness-intellectual disability syndrome

Kawashima-Tsuji syndrome · Microcephaly-hearing loss-intellectual disability syndrome

Microcephaly-digital anomalies-intellectual disability syndrome

Kelly-Kirson-Wyatt syndrome

Nijmegen breakage syndrome-like disorder

Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder

OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome

Syndrome with combined immunodeficiency