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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum

Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum

Summary

Neurodevelopmental disorder with seizures, spasticity, and partial or complete agenesis of the corpus callosum (NEDSSCC) is an autosomal recessive disorder characterized by axial hypotonia and global developmental delay apparent from the first days or months of life. Affected individuals often have feeding difficulties and develop early-onset seizures that tend to be well-controlled. Other features include peripheral spasticity with hyperreflexia, variable dysmorphic features, impaired intellectual development, behavioral abnormalities, and hypoplasia or absence of the corpus callosum on brain imaging (Faqeih et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C12ord51, C12orf51, HEEL, NEDSSCC, POTAGE, HECTD4
    Summary: HECT domain E3 ubiquitin protein ligase 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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