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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 110

Developmental and epileptic encephalopathy 110

Summary

Developmental and epileptic encephalopathy-110 (DEE110) is an autosomal recessive disorder characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. Affected individuals achieve almost no developmental milestones and show impaired intellectual development, poor or absent speech, inability to walk or grasp objects, peripheral spasticity, and poor eye contact. Brain imaging shows hypoplastic corpus callosum and cortical atrophy (Dahimene et al., 2022). For a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CACNA2, CACNL2A, CCHL2A, DEE110, LINC01112, lncRNA-N3, CACNA2D1
    Summary: calcium voltage-gated channel auxiliary subunit alpha2delta 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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