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Diets-Jongmans syndrome

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DISTINCTIVE FACIAL DYSMORPHISM

Summary

Diets-Jongmans syndrome (DIJOS) is an autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt (summary by Diets et al., 2019). [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: 5qNCA, C5orf7, DIJOS, JMJD1B, NET22, KDM3B
    Summary: lysine demethylase 3B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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