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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 104

Developmental and epileptic encephalopathy 104

Summary

Developmental and epileptic encephalopathy-104 (DEE104) is an autosomal dominant disorder characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures (summary by Bott et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [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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