obsolete_Nijmegen breakage syndrome true AT V1 NBS 3.41.0 Seemanova syndrome type 2 Replaced with Mondo term. OMIM:251260 MESH:D049932 Immunodeficiency - microcephaly - chromosomal instability 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. UMLS:C0398791 orphanet Ataxia-telangiectasia, variant 1 MedDRA:10067857 UMLS:C2930831 Berlin breakage syndrome http://purl.obolibrary.org/obo/MONDO_0009623 MESH:C531759 Microcephaly - immunodeficiency - lymphoreticuloma