Patient | Genotype | ERT | Outcome | Year of birth | Clinical phenotype | CRIM status | Sibship |
1 | p.(Gly648Ser); (Arg854*) | Y | Alive | 2015 | Infantile | Positive | |
2 | p.(Gly648Ser); (Arg854*) | Y | Alive | 2013 | Infantile | Positive | |
3 | p.(Gly648Ser); (Arg854*) | Y | Alive | 2013 | Infantile | Positive | |
4 | p.(Gly648Ser); (Arg854*) | Y | Alive | 2012 | Infantile | Positive | Sister 9/F1 |
5 | p.(Gly648Ser); (Arg854*) | N | Dead | 2011 | Infantile | Positive | |
6 | p.(Gly648Ser); (Arg854*) | N | Dead | 2011 | Infantile | Positive | |
7 | p.(Gly648Ser); (Arg854*) | Y | Dead | 2010 | Infantile | Positive | Brother 17/F2 |
8 | p.(Gly648Ser); (Arg854*) | N | Dead | 2010 | Infantile | ND | |
9 | ND | N | Dead | 2010 | Infantile | ND | Brother 4/F1 |
10 | p.(Gly648Ser); (Arg854*) | N | Dead | 2008 | Infantile | ND | |
11 | ND | N | Dead | 2007 | Infantile | ND | Brother 19/F3 |
12 | p.(Arg854*); (Arg854*) | N | Dead | 2006 | Infantile | Negative | |
13 | p.(Arg854*); ((?)) | N | Dead | 2005 | Infantile | N | Brother 15/F4 |
14 | ND | N | Dead | 2005 | Infantile | N | |
15 | ND | N | Dead | 2003 | Infantile | ND | Sister 13/F4 |
16 | ND | N | Dead | 2003 | Infantile | ND | |
17 | ND | N | Dead | 2002 | Infantile | ND | Brother 7/F2 |
18 | ND | N | Dead | 2002 | Infantile | N | Cousin 19/F3 |
19 | p.(Gly648Ser); ((?)) | N | Dead | 2002 | Infantile | ND | Cousin 18/F3 |
CRIM, cross-reactive immunological material; ERT, enzyme replacement therapy; F, the family to which the child belongs; N, no; ND, not done; Y, yes.