Skip to main content
. 2013 May 22;22(1):79–87. doi: 10.1038/ejhg.2013.77

Table 4. Correlation of AOH regions with autosomal recessive disorders.

AR disorder Genes related to diagnosis Total AOH >10 Mb Gene within AOH block AOH size (Mb) Comment
Cohen syndrome VSP13B 29 VSP13B 11 Homozygous exonic deletion detected
HHH syndrome SLC25A15 270 SLC25A15 40 Homozygous mutation in SLC25A15 detected
SCID 18 genes 332 CD3D 8 Homozygous mutation in CD3D detected
Usher syndrome Dozens of genes 214 USH2A 18