Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258655 | SCV000320871 | pathogenic | Obesity; Global developmental delay; Motor delay; Feeding difficulties; Polyhydramnios; Delayed speech and language development; Short philtrum; Neonatal hypotonia; Downturned corners of mouth; Acromesomelia; Lipedema | 2016-08-20 | criteria provided, single submitter | research |