... may contain more recent information. — ED. Table A. Nijmegen Breakage Syndrome: Genes and ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...

... patients with DNA repair syndromes, including ataxia-telangiectasia, Nijmegen breakage syndrome, and constitutional mismatch repair deficiency.[ 13 ] The distribution ...

... Progressive cerebellar degeneration No telangiectasias or immunodeficiency NBN Nijmegen breakage syndrome AR Small stature Evidence of excessive genomic instability ...

... breakage 2 Progressive bone marrow failure w/pancytopenia Nijmegen breakage syndrome NBN AR Microcephaly, progressive IUGR w/postnatal short ... click here . National Library of Medicine Genetics Home Reference Warsaw breakage syndrome American Society for Deaf Children Phone: 800-942- ...

... Stringham HM, et al.: Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder ...

... Clinodactyly Dental anomalies Global DD Microcephaly Synophrys NBN Nijmegen breakage syndrome AR Chromosome instability Microcephaly Sloping forehead PCNT Microcephalic ...

... cancers that occur at an early age NBN Nijmegen breakage syndrome AR May manifest ↑ chromosome breakage w/MMC Short ...

... and nonmelanoma skin cancers Adolescents and young adults Nijmegen breakage syndrome NBS1 AR NHL, ALL Congenital malformations Presents more ...

... recognized retrospectively, assoc w/syndromic diagnoses such as Nijmegen breakage syndrome , Bloom syndrome , & Seckel syndrome (see Note following table). ...