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Developmental delay, dysmorphic facies, and brain anomalies

Summary

Developmental delay, dysmorphic facies, and brain anomalies (DEVDFB) is characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference. Most affected individuals have early-onset seizures that are variable in severity. Brain imaging typically shows hypoplasia of the corpus callosum and/or delayed myelination (Hiraide et al., 2021; Kuroda et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DEVDFB, U2AF65, U2AF2
    Summary: U2 small nuclear RNA auxiliary factor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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