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Mandibular hypoplasia-deafness-progeroid syndrome
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs late in the first or second decades of life (summary by Weedon et al., 2013). [from OMIM]
Colorectal cancer, susceptibility to, 10
Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene. [from MONDO]
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