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Hypotonia, ataxia, and delayed development syndrome

Summary

Excerpted from the GeneReview: EBF3 Neurodevelopmental Disorder
EBF3 neurodevelopmental disorder (EBF3-NDD) is associated with developmental delay (DD) / intellectual disability (ID), speech delay, gait or truncal ataxia, hypotonia, behavioral problems, and facial dysmorphism. Variability between individuals with EBF3-NDD is significant. Although all affected children have DD noted in early infancy, intellect generally ranges from mild to severe ID, with two individuals functioning in the low normal range. Less common issues can include genitourinary abnormalities and gastrointestinal and/or musculoskeletal involvement. To date, 42 symptomatic individuals from 39 families have been reported.
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:
Dhanya Lakshmi Narayanan
Kerstin Kutsche
Katta M Girisha
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Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COE3, EBF-3, HADDS, O/E-2, OE-2, EBF3
    Summary: EBF transcription factor 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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