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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 31B

Developmental and epileptic encephalopathy, 31B

Synonyms
Developmental and epileptic encephalopathy 31B, autosomal recessive

Summary

Developmental and epileptic encephalopathy-31B (DEE31B) is an autosomal recessive neurologic disorder with early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay (Yigit et al., 2022). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE31, DEE31A, DEE31B, DNM, EIEE31, DNM1
    Summary: dynamin 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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