Study Status: Withdrawn
Recruit Status: Withdrawn
Study Type: Observational
Official Title: Human Disease With Mutation of Nonmuscle Myosin Heavy Chain Genes
Brief Summary: This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes. Mutations in non-muscle genes have been shown to result in human defects involving blood platelets, kidney, hearing and sight. The major objective of this protocol is to study a variety of blood, tissue and urine samples by looking at protein, DNA, and RNA in those collected samples.