Sharing Diagnostic Insights to Support Rare Disease Patients
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features
Defining a disorder’s complete clinical spectrum requires a detailed description of large numbers of patients. To help advance the understanding of rare diseases, CENTOGENE is committed to leveraging its extensive Bio/Databank and sharing its diagnostic insights within the scientific community. A pertinent study of a rare neurodevelopmental disorder using these insights was recently published in the European Journal of Human Genetics.