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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 40

Developmental and epileptic encephalopathy, 40

Synonyms
Epileptic encephalopathy, early infantile, 40

Summary

Developmental and epileptic encephalopathy-40 (DEE40) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms within the first 6 months of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding, axial hypotonia with peripheral spasticity, limited eye contact, profoundly impaired intellectual development with absent language, and poor fine motor skills (summary by Alfaiz et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE40, EF-4, EF4, EIEE40, GUF1
    Summary: GTP binding elongation factor GUF1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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