mismatch repair cancer syndrome 4
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, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis.
MONDO:0031219
mismatch repair cancer syndrome
is_a
MMRCS4
exact
PMS2-related constitutional mismatch repair deficiency syndrome
exact
mismatch repair cancer syndrome 4
exact
SPAC19G12.02c