Krankheit

Nijmegen Breakage-Syndrom

NIJMEGEN BREAKAGE SYNDROME

OMIM: 251260

Synonyme

  • Ataxia telangiectasia Variante V1
  • NBS
  • ATAXIA-TELANGIECTASIA VARIANT V1; AT-V1
  • MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES
  • SEEMANOVA SYNDROME II
  • NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE
  • IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY

Gen locations