Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Pediatrics And Neonatology, |
RCV000496977 | SCV000328417 | pathogenic | Vici syndrome | 2016-08-11 | no assertion criteria provided | research | Patient, a 1 year-old boyl, showed severe developmental delay,hypotonia, seizure, hypopigmentation, cardiomyopathy, and high-arched palate. Her last head circumference was 43.5 (-2.6SD). This mutation was confirmed compound geterozygosity. He died due to cardiomyopathy. |