Nijmegen breakage syndrome

MONDO:0009623

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

Also known as: AT V1, Berlin breakage syndrome, NBS, NBs, Nijmegen breakage syndrome, Seemanova syndrome, Seemanova syndrome type 2, ataxia-telangiectasia, variant 1

31 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials