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Up to: Hereditary neurological disease · Hereditary neoplastic syndrome · Mismatch repair cancer syndrome
Mismatch repair cancer syndrome 1
An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 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.
This condition has no sub-types.