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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 49

Developmental and epileptic encephalopathy, 49

Synonyms
Epileptic encephalopathy, early infantile, 49

Summary

Developmental and epileptic encephalopathy-49 (DEE49) is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE49, EIEE49, RAB6IP1, DENND5A
    Summary: DENN domain containing 5A

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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