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Nijmegen breakage syndrome-like disorder (NBSLD)

NBSLD is a disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent.

OTHER NAME(S): NBS-like disorder
RAD50 deficiency

ABREVIATION(S):
NBSLD

TYPE: microcephaly, chromosomal instability, sensitivity to radiation, facial anomalies, growth retardation

Related patway(s): homologous recombination (HR), non-homologous end-joining (NHEJ)

DNAtraffic protein(s) related to disease: RAD50

OMIM: 613078

Last modification date: Feb. 6, 2012