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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 111

Developmental and epileptic encephalopathy 111

Summary

Developmental and epileptic encephalopathy-111 (DEE111) is an autosomal recessive severe neurologic disorder characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech. Most patients have macrocephaly. Brain imaging shows frontal, parietal, and perisylvian polymicrogyria, dysmorphic basal ganglia and corpus callosum, and hypoplastic pons. Additional features may include feeding difficulties, poor vision with ocular anomalies, congenital cardiac abnormalities, and recurrent infections associated with neutropenia. Death in early childhood may occur (Ververi et al., 2023). For a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE111, DEP.5, FFEVF, FFEVF1, FPEVF, DEPDC5
    Summary: DEP domain containing 5, GATOR1 subcomplex subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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