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Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities

Summary

Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) is an early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder (ASD; 209850) or Angelman syndrome (AS; 105830). Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum (summary by Mattioli et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ANOVA, NEDASB, NOVA-2, NOVA3, NOVA2
    Summary: NOVA alternative splicing regulator 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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