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GTR Home > Conditions/Phenotypes > Epileptic encephalopathy, infantile or early childhood, 3

Epileptic encephalopathy, infantile or early childhood, 3

Synonyms
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93

Summary

Developmental and epileptic encephalopathy (DEE93) is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018). For a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARCL2D, ATP6A1, ATP6V1A1, DEE93, HO68, IECEE3, VA68, VPP2, Vma1, ATP6V1A
    Summary: ATPase H+ transporting V1 subunit A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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