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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies

Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies

Summary

IDDEBF is a severe disorder characterized by impaired intellectual development, epilepsy, behavioral abnormalities, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes (Kvarnung et al., 2018). [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMS15, IDDEBF, MEPCA, ALG14
    Summary: ALG14 UDP-N-acetylglucosaminyltransferase subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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