Phase 3 - MOMIC RDF Dataset

Phase 3: Development of a multi-omics work-flow to discover rare diseases in children with extreme phenotypes. This study is a national multi-center prospective cohort study of n=140 patients aged from birth up to 20 years with extreme phenotypes admitted or referred to Swiss Children's Hospitals.We will obtain written consent and assent (if applicable) for all subjects taking part. We will collect blood samples from patients at presentation, alongside with routine clinical tests, and a skin biopsy. We will perform a buccal swab to patient's parents and siblings.