Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 30-05-2009

Symbol	NBSLD
Location	5q31
Name	Nijmegen breakage syndrome -like disorder
Corresponding gene	RAD50
Main clinical features	microcephaly, growth retardation, spontaneous chromosomal instability including characteristic translocations between chromosomes 7 and 14, cellular hypersensitivity to ionizing radiation, and radioresistant DNA synthesis mild to moderate retardation of psychomotor development, mild spasticity, and very modestly impaired sensomotor coordination
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)