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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities

Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities

Summary

Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities (NEDSMB) is an autosomal recessive disorder characterized by global developmental delay and severely impaired intellectual development with aggressive behavior. Mild dysmorphic features and hypodontia are also present (Faqeih et al., 2023). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HECTH2, NDSMBA, NEDSMBA, RAUL, UBE3C
    Summary: ubiquitin protein ligase E3C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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