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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with epilepsy and brain atrophy

Neurodevelopmental disorder with epilepsy and brain atrophy

Summary

Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA) is an autosomal recessive disorder characterized by early-onset progressive myoclonus epilepsy with ataxia (summary by Bott et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ATP6N1, ATP6N1A, DEE104, NEDEBA, Stv1, VPP1, Vph1, a1, ATP6V0A1
    Summary: ATPase H+ transporting V0 subunit a1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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