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GTR Home > Conditions/Phenotypes > Mandibular hypoplasia-deafness-progeroid syndrome

Mandibular hypoplasia-deafness-progeroid syndrome

Synonyms
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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]

Available tests

46 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDC2, CRCS10, IMD120, MDPL, POLD, POLD1
    Summary: DNA polymerase delta 1, catalytic subunit

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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