Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Pediatrics And Neonatology, |
RCV000496982 | SCV000328413 | pathogenic | Vici syndrome | 2016-08-11 | no assertion criteria provided | research | Patient, a 7 year-old girl, showed severe developmental delay, hypotonia, seizure, hypopigmentation, and high-arched palate. Her last head circumference was 48.0 (-2.6SD). This mutaion was confirmed compound heterozygosity. Her sister also had the same mutaion. |