has material basis in germline mutation in NBN autosomal recessive disease Nijmegen breakage syndrome https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome https://www.malacards.org/card/nijmegen_breakage_syndrome NBs OMIM:251260 SCTID:234638009 MEDGEN:140771 MONDO:0009623 Orphanet:647 immunodeficiency-microcephaly-chromosomal instability syndrome NBS DOID:7400 Seemanova syndrome microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies MedDRA:10067857 icd11.foundation:1925662580 Seemanova syndrome type 2 MESH:D049932 ataxia-telangiectasia, variant 1 NANDO:2200706 Nijmegen breakage syndrome microcephaly immunodeficiency lymphoreticuloma NANDO:1200332 AT V1 NCIT:C4692 GARD:0003904 Berlin breakage syndrome 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. Nonsyndromal microcephaly autosomal recessive with normal intelligence UMLS:C0398791 multiple congenital anomalies/dysmorphic syndrome without intellectual disability developmental anomaly of metabolic origin DNA repair disease