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GTR Home > Conditions/Phenotypes > Kleefstra syndrome 2

Kleefstra syndrome 2

Summary

Kleefstra syndrome-2 (KLEFS2) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variably impaired intellectual development, and mild dysmorphic features (summary by Koemans et al., 2017). For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (610253). [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HALR, KLEFS2, MLL3, KMT2C
    Summary: lysine methyltransferase 2C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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