Nijmegen breakage syndrome
MONDO:0009623Also known as: AT V1, Berlin breakage syndrome, NBS, Nijmegen breakage syndrome, Seemanova syndrome
Rare disease39 associated genes
Description
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.
Associated genes
+29 more genes — install the extension to see the full list inline on any page.