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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 29

Developmental and epileptic encephalopathy, 29

Synonyms
Epileptic encephalopathy, early infantile, 29

Summary

Developmental and epileptic encephalopathy-29 (DEE29) is an autosomal recessive neurologic disorder characterized by the onset of refractory myoclonic seizures in the first months of life. Affected individuals have poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation (summary by Simons et al., 2015). 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: AARS, CMT2N, DEE29, EIEE29, HDLS2, TTD8, AARS1
    Summary: alanyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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