Intersex/Differences of Sex Development (I/DSD) Traits: Exploring Their Association with 15% of Phenotypically Detailed Genetic Disorders
The paper identifies 15.5% of phenotypically detailed genetic disorders in OMIM associated with I/DSD-related HPO terms, highlighting their broader systemic impact and the need for a continuum-based understanding of I/DSD.
medRxiv · May 27, 2024 · PreprintGenetic & Genomic Medicine