Rare Disease Library

Nijmegen breakage syndrome-like disorder

Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder

ICF syndrome

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

Immunodeficiency with factor H anomaly

Immunodeficiency with factor I anomaly

Complete factor I deficiency

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

Premature chromosome condensation with microcephaly and intellectual disability