Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Molecular Genetics Lab, |
RCV000191016 | SCV000218430 | pathogenic | X-linked ichthyosis with steryl-sulfatase deficiency | 2015-01-16 | no assertion criteria provided | research | The characteristic sex-linked segregation of phenotype and concomitant finding of recurrent microdeletions at Xp22.31 in this report as well as in previous findings strongly suggest the clinical significance of these microdeletions in X-linked icthyosis |