Expanding Phenotypes of Female Heterozygotes in X-Linked Neurogenetic Conditions
2:00pm-3:00pm ET
Description:
This session explores the evolving understanding of X-linked neurogenetic conditions in female heterozygotes. Experts will highlight how variable X-inactivation leads to diverse clinical presentations in females, challenging traditional classifications of X-linked disorders. Case studies and research findings on conditions such as OTC deficiency, DMD, X-ALD, and PDHA1-related PDC deficiency will be discussed, along with updates in terminology related to sex and gender in medical genetics.