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Items: 2

1.

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]

MedGen UID:
811623
Concept ID:
C3715192
Disease or Syndrome
2.

Colorectal cancer, susceptibility to, 10

Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene. [from MONDO]

MedGen UID:
436445
Concept ID:
C2675481
Finding

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