Catalog

Nijmegen breakage syndrome

No MMS code

Link to WHO Definition

Nijmegen breakage syndrome – http://id.who.int/icd/entity/1925662580

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