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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder with seizures and language delay

Intellectual developmental disorder with seizures and language delay

Summary

Excerpted from the GeneReview: SETD1B-Related Neurodevelopmental Disorder
SETD1B-related neurodevelopmental disorder (SETD1B-NDD) is characterized by developmental delay (mainly affecting speech and language), intellectual disability, seizures, autism spectrum disorder or autism-like behaviors, and additional behavioral concerns. Speech delay and/or language disorder has been reported in most affected individuals. Delay in gross motor skills and mild-to-moderate intellectual disability are common. Most affected individuals have seizures with variable onset and seizure type. Behavioral issues including hyperactivity, aggression, anxiety, and sleep disorders have been reported in approximately half of individuals. Less common features include ophthalmologic manifestations and feeding issues.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Alexandra Roston
William Gibson
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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: IDDSELD, KMT2G, Set1B, SETD1B
    Summary: SET domain containing 1B, histone lysine methyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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