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Developmental delay with variable neurologic and brain abnormalities

Summary

Developmental delay with variable neurologic and brain abnormalities (DENBA) is characterized most often by motor and speech delay apparent from early childhood. Most patients have delayed walking and variably impaired intellectual development. Additional neurologic features may include seizures, spasticity, and ocular abnormalities. Brain imaging often shows thin corpus callosum and may show white matter atrophy, myelination abnormalities, or enlarged ventricles. The severity of the disorder and clinical manifestations are highly variable (summary by Malhotra et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DENBA, LMBRD2
    Summary: LMBR1 domain containing 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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