Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000043501 | SCV000067334 | pathogenic | Blepharophimosis - intellectual disability syndrome, MKB type | 2013-03-07 | no assertion criteria provided | literature only | |
Gene |
RCV001580268 | SCV000297772 | not provided | FG syndrome 1 | no assertion provided | literature only | Reported in a male with X-linked Ohdo syndrome |