CNS5:Constitutional mismatch repair deficiency syndrome
See page in GTS5 volume. Linked here: GTS5:Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6)
See page in GTS5 volume. Linked here: GTS5:Constitutional mismatch repair deficiency (CMMRD) syndrome (MLH1, PMS2, MSH2, MSH6)