NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Disease: Developmental delay (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34767364
rs34767364
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0424605
Disease:
Developmental delay (disorder) 		0.010 GeneticVariation BEFREE Here, we describe for the first time a severe form of NBS without chromosomal instability in monozygotic twin brothers with profound congenital microcephaly and developmental delay who are compound heterozygotes for the 657del5 and 643C>T(R215W) NBS1 mutations. 16033915 2006