Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258553 | SCV000320749 | pathogenic | Epiblepharon of lower lid; Global developmental delay; Visual impairment; Feeding difficulties; Brachycephaly; Short lingual frenulum; Microcephaly; Intellectual disability; Downturned corners of mouth; Acromesomelia; Supraventricular tachycardia; Retinal dysplasia; Complete duplication of thumb phalanx; Midface retrusion; Recurrent hand flapping; Hypotonia | 2016-08-20 | criteria provided, single submitter | research |