Under the name constitutional<unk><unk> -deficiency, (CMMR-D), it has been mapped to MLH1, MSH2, MSH6 or PMS2. Monoallelic mutations of these genes are observed in the condition known as Lynch syndrome or hereditary nonpolyposis colorectal<unk> , while biallelic mutations are observed in CMMR-D. People expressing the HNPCC (which itself is considered autosomal dominant) trait are considered carriers of CMMR-D, thus CMMR-D is classified as autosomal recessive. The term "childhood<unk>  syndrome" has also been proposed. Café-au-lait macules have been observed.
Mismatch repair cancer syndrome
Nijmegen breakage syndrome
Chromosome instability syndrome
Warsaw breakage syndrome
SAPHO syndrome
Polymerase proofreading-associated polyposis
Chronic granulomatous disease
MUTYH-associated polyposis