An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by a high risk of childhood cancers, inclu...
Comprehensive, easy-to-understand information about this condition
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Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.