Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Pediatrics And Neonatology, |
RCV000496976 | SCV000328414 | pathogenic | Vici syndrome | 2016-08-11 | no assertion criteria provided | research | Patient, a 15 year-old girl, showed severe developmental delay, hypotonia, seizure, and high-arched palate. Her last head circumference was 50.8 (-2.7SD). This mutaion was confirmed compound heterozygosity. Her brother who died at 14 years old also had the same mutation. |