Mulibrey Nanism and the Real Time Use of Genome and Biobank Engines to Inform Clinical Care in an Ultrarare Disease.

Clinical care for those with ultrarare genetic cardiovascular conditions requires particular attention to the molecular basis of disease yet often this knowledge is incomplete. Large biobanks of both population-level data linking genotype and phenotype and transcriptomic data are rapidly expanding and increasingly easy to use through web-based engines. Here, we report a case of the ultrarare autosomal recessive disorder Mulibrey nanism with concurrent mitral valve prolapse and liver cirrhosis and our use of genome and biobank engines in real time to gain insight into the biology of this disease and inform clinical care.