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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 61

Developmental and epileptic encephalopathy, 61

Synonyms
Early infantile epileptic encephalopathy 61

Summary

Developmental and epileptic encephalopathy-61 (DEE61) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in the first months or years of life. There is profound global developmental delay with intellectual disability, inability to walk, poor voluntary movements, spasticity, microcephaly, cerebral atrophy, and dysmorphic facial features (summary by Muona et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADAM 22, DEE61, EIEE61, MDC2, ADAM22
    Summary: ADAM metallopeptidase domain 22

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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