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GTR Home > Conditions/Phenotypes > Lessel-kubisch syndrome

Lessel-kubisch syndrome

Summary

Lessel-Kubisch syndrome (LSKB) is characterized by short stature and progeroid features, including prematurely gray hair, pinched facies, and scleroderma-like skin changes. Renal failure-associated hypertension and hypogonadism have also been observed (Lessel et al., 2017). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACTFS, HDMX, LSKB, hdm2, MDM2
    Summary: MDM2 proto-oncogene

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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